Human Phenotype Ontology 
Grandparent Node:
expandAbnormal circulating carboxylic acid concentration (HP:0004354)help
Parent Node:
expandAbnormality of amino acid metabolism (HP:0004337)help
..Starting node
..expandHyperbeta-alaninemia (HP:0012556)help
Term ID: 12556
Name: Hyperbeta-alaninemia
Synonym: High blood beta-alanine levels; Hyperbetaalaninemia
Definition: Increased concentration of beta-alanine in the blood.
Comments:
Reference: HP:0012556
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal circulating amino acid concentration (HP:0003112) help
..expandAbnormal circulating aromatic amino acid concentration (HP:0004338) help
..expandAbnormal circulating aspartate family amino acid concentration (HP:0010899) help
..expandAbnormal circulating branched chain amino acid concentration (HP:0010892) help
..expandAbnormal circulating citrulline concentration (HP:0011965) help
..expandAbnormal circulating creatine concentration (HP:0012113) help
..expandAbnormal circulating glutamine family amino acid concentration (HP:0010902) help
..expandAbnormal circulating histidine concentration (HP:0010904) help
..expandAbnormal circulating ornithine concentration (HP:0012025) help
..expandAbnormal circulating pyruvate family amino acid concentration (HP:0010915) help
..expandAbnormal circulating sulfur amino acid concentration (HP:0004339) help
..expandAminoaciduria (HP:0003355) help
..expandPropionyl-CoA carboxylase deficiency (HP:0003353) 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:0012556HP:0012556Hyperbeta-alaninemia0 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.