Human Phenotype Ontology 
Grandparent Node:
expandAbnormal enzyme/coenzyme activity (HP:0012379)help
Parent Node:
expandAbnormal uridine diphosphate glucose-4-epimerase level (HP:0410192)help
..Starting node
..expandAbnormal uridine diphosphate glucose-4-epimerase level in plasma (HP:0410193)help
Term ID: 410193
Name: Abnormal uridine diphosphate glucose-4-epimerase level in plasma
Synonym: Abnormal UDP-glucose 4-epimerase activity level in plasma
Definition: An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Comments:
Reference: HP:0410193
Genes and Diseases:
 
       Child Nodes:
........expandIncreased uridine diphosphate glucose-4-epimerase activity in plasma (HP:0410194) help
........expandDecreased uridine diphosphate glucose-4-epimerase activity in plasma (HP:0410195) help

 Sister Nodes: 
..expandAbnormal uridine diphosphate glucose-4-epimerase level in red blood cells (HP:0410196) 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:0410193HP:0410193Abnormal uridine diphosphate glucose-4-epimerase level in plasma0 CL E G H
HP:0410193HP:0410195Decreased uridine diphosphate glucose-4-epimerase level in plasma1 CL E G H
HP:0410193HP:0410194Increased uridine diphosphate glucose-4-epimerase level in plasma1 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.