Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the liver (HP:0001392)help
Parent Node:
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Abnormal circulating carnitine concentration (HP:0010967)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
..Starting node
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Decreased carnitine level in liver (HP:0045061)help
Term ID: 45061
Name: Decreased carnitine level in liver
Synonym:
Definition:
Comments:
Reference: HP:0045061
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal hepatic glycogen storage (HP:0500030) help
..expandAbnormal hepatic iron concentration (HP:0040134) help
..expandAbnormal liver parenchyma morphology (HP:0030146) help
..expandAbnormality of the hepatic vasculature (HP:0006707) help
..expandCirrhosis (HP:0001394) help
..expandCystic liver disease (HP:0006706) help
..expandDegenerative liver disease (HP:0005237) help
..expandDepletion of mitochondrial DNA in liver (HP:0006581) help
..expandEctopic liver (HP:0030722) help
..expandElevated hepatic transaminase (HP:0002910) help
..expandHepatic agenesis (HP:0100839) help
..expandHepatic amyloidosis (HP:0012280) help
..expandHepatic calcification (HP:0006559) help
..expandHepatic fibrosis (HP:0001395) help
..expandHepatic granulomatosis (HP:0011955) help
..expandHepatic necrosis (HP:0002605) help
..expandHepatitis (HP:0012115) help
..expandHepatomegaly (HP:0002240) help
..expandHepatosplenomegaly (HP:0001433) help
..expandLiver abscess (HP:0100523) help
..expandNodular regenerative hyperplasia of liver (HP:0011954) help
..expandStorage in hepatocytes (HP:0031137) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0045061HP:0045061Decreased carnitine level in liver0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :SLC22A5

Diseases (1) :212140
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.