Human Phenotype Ontology 
Grandparent Node:
expandAbnormal skeletal muscle morphology (HP:0011805)help
Parent Node:
expandAbnormal circulating carnitine concentration (HP:0010967)help
Parent Node:
expandAbnormal muscle fiber morphology (HP:0004303)help
..Starting node
..expandReduced muscle carnitine level (HP:0030362)help
Term ID: 30362
Name: Reduced muscle carnitine level
Synonym:
Definition: A reduction in the level of carnitine in muscle tissue.
Comments:
Reference: HP:0030362
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal muscle fiber protein expression (HP:0030089) help
..expandAbnormal muscle glycogen content (HP:0012269) help
..expandAbnormality of skeletal muscle fiber size (HP:0012084) help
..expandAutophagic vacuoles (HP:0003736) help
..expandCentral core regions in muscle fibers (HP:0030230) help
..expandCentrally nucleated skeletal muscle fibers (HP:0003687) help
..expandDeposits immunoreactive to beta-amyloid protein (HP:0003791) help
..expandHypertrophied muscle fibers (HP:0100293) help
..expandIncreased endomysial connective tissue (HP:0100297) help
..expandIncreased muscle lipid content (HP:0009058) help
..expandInternally nucleated skeletal muscle fibers (HP:0031237) help
..expandMotheaten muscle fibers (HP:0100298) help
..expandMuscle fiber atrophy (HP:0100295) help
..expandMuscle fiber inclusion bodies (HP:0100299) help
..expandMuscle fiber necrosis (HP:0003713) help
..expandMuscle fiber splitting (HP:0003555) help
..expandMyelin-like whorls in vacuolated fibers (HP:0031542) help
..expandNecklace skeletal muscle fibers (HP:0031238) help
..expandPerifascicular muscle fiber atrophy (HP:0100296) help
..expandRagged-red muscle fibers (HP:0003200) help
..expandRimmed vacuoles (HP:0003805) help
..expandRing fibers (HP:0100305) help
..expandType 1 muscle fiber predominance (HP:0003803) help
..expandType 2 muscle fiber predominance (HP:0010602) 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:0030362HP:0030362Reduced muscle carnitine level0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207


Genes (1) :SLC22A5

Diseases (1) :OMIM:212140
 

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