Human Phenotype Ontology 
..Starting node
..expandAbnormal circulating keto acid concentration (HP:0033435)help
Term ID: 33435
Name: Abnormal circulating keto acid concentration
Synonym:
Definition: A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.
Comments:
Reference: HP:0033435
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:0033435HP:0033435Abnormal circulating keto acid concentration0 CL E G H
HP:0033435HP:0033437Elevated circulating 4-methyl-2-oxopentanoic acid concentration1 CL E G H
HP:0033435HP:0033436Elevated circulating 3-methyl-2-oxovaleric acid concentration1 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.