Human Phenotype Ontology 
..Starting node
..expandElevated circulating hydroxybutyric acid concentration (HP:0033417)help
Term ID: 33417
Name: Elevated circulating hydroxybutyric acid concentration
Synonym:
Definition: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.
Comments:
Reference: HP:0033417
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:0033417HP:0033417Elevated circulating hydroxybutyric acid concentration0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0033417HP:0033419Elevated circulating 3-hydroxybutyric acid concentration1 CL E G H
HP:0033417HP:0033418Elevated circulating 2-hydroxybutyric acid concentration1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134


Genes (1) :NFU1

Diseases (1) :OMIM:605711
 

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