Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormality of Krebs cycle metabolism (HP:0000816)help
..Starting node
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Decreased pyruvate carboxylase activity (HP:0003209)help
Term ID: 3209
Name: Decreased pyruvate carboxylase activity
Synonym:
Definition: A decreased rate of pyruvate carboxylase activity.
Comments:
Reference: HP:0003209
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased fumarate hydratase activity (HP:0003536) help
..expandDecreased methylmalonyl-CoA mutase activity (HP:0003210) 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:0003209HP:0003209Decreased pyruvate carboxylase activity0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18


Genes (1) :FXN

Diseases (1) :OMIM:229300
 

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