Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of amino acid metabolism (HP:0004337)help
Parent Node:
expand
Abnormal circulating amino acid concentration (HP:0003112)help
..Starting node
..expand
Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)help
Term ID: 410053
Name: Elevated circulating gamma-aminobutyric acid concentration
Synonym: Increased circulating GABA concentration; Increased level of GABA in serum; Increased level of gamma-aminobutyric acid in serum
Definition: An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.
Comments:
Reference: HP:0410053
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased circulating GABA concentration (HP:0410054) help
..expandHyperalaninemia (HP:0003348) help
..expandHyperglutaminemia (HP:0003217) help
..expandHyperglycinemia (HP:0002154) help
..expandHyperlysinemia (HP:0002161) help
..expandHyperthreoninemia (HP:0003354) help
..expandHypoglycinemia (HP:0012277) help
..expandHypomethioninemia (HP:0003658) 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:0410053HP:0410053Elevated circulating gamma-aminobutyric acid concentration0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108


Genes (1) :ALDH5A1

Diseases (1) :OMIM:271980
 

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