Human Phenotype Ontology 
Grandparent Node:
Abnormal circulating carnitine concentration (HP:0010967)help
Grandparent Node:
Abnormality of mitochondrial metabolism (HP:0003287)help
Parent Node:
Decreased plasma carnitine (HP:0003234)help
..Starting node
Decreased plasma free carnitine (HP:0008315)help
Term ID: 8315
Name: Decreased plasma free carnitine
Definition: A decreased concentration of free (unbound) carnitine in the blood.
Reference: HP:0008315
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandDecreased plasma total carnitine (HP:0011936) 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:0008315HP:0008315Decreased plasma free carnitine0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040281 - Very frequent101
HP:0008315HP:0008315Decreased plasma free carnitine0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0008315HP:0008315Decreased plasma free carnitine0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0008315HP:0008315Decreased plasma free carnitine0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0008315HP:0008315Decreased plasma free carnitine0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446

Genes (3) :CPT2 NADK2 SCO1

Diseases (5) :ORPHA:228308 ORPHA:228305 OMIM:608836 OMIM:616034 OMIM:619048

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