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 fumarate hydratase activity (HP:0003536)help
Term ID: 3536
Name: Decreased fumarate hydratase activity
Synonym:
Definition: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
Comments:
Reference: HP:0003536
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDecreased methylmalonyl-CoA mutase activity (HP:0003210) help
..expandDecreased pyruvate carboxylase activity (HP:0003209) 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:0003536HP:0003536Decreased fumarate hydratase activity0FH CL E G H22713700OMIM:150800Hereditary leiomyomatosis and renal cell cancer.301


Genes (1) :FH

Diseases (1) :OMIM:150800
 

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