Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormal enzyme/coenzyme activity (HP:0012379)

..Starting node
..Abnormal uridine diphosphate glucose-4-epimerase level (HP:0410192)

Term ID:

410192

Name:

Abnormal uridine diphosphate glucose-4-epimerase level

Synonym:

Abnormal UDP-glucose 4-epimerase level

Definition:

An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.

Comments:

Reference:

HP:0410192

Genes and Diseases:

Child Nodes:

........

Abnormal uridine diphosphate glucose-4-epimerase activity in plasma (HP:0410193)

................... HP:0410194 Increased uridine diphosphate glucose-4-epimerase activity in plasma
................... HP:0410195 Decreased uridine diphosphate glucose-4-epimerase activity in plasma

........

Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells (HP:0410196)

................... HP:0410197 Increased uridine diphosphate glucose-4-epimerase activity in red blood cells
................... HP:0410198 Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells

Sister Nodes:

Abnormal aldolase level (HP:0012400)

Abnormal biotinidase level (HP:0410144)

Abnormal erythrocyte enzyme level (HP:0030272)

Abnormal hypoxanthine-guanine phosphoribosyltransferase level (HP:0031821)

Abnormal lactate dehydrogenase level (HP:0045040)

Abnormal superoxide dismutase level (HP:0031835)

Abnormality of alkaline phosphatase level (HP:0004379)

Decreased circulating lipoprotein lipase concentration (HP:0031209)

Decreased lecithin cholesterol acyl transferase level (HP:0025433)

Decreased small intestinal mucosa lactase level (HP:0025130)

Elevated gamma-glutamyltransferase level (HP:0030948)

obsolete Abnormal serum tryptase concentration (HP:0031900)

Platelet-activating factor acetylhydrolase deficiency (HP:0040175)

Reduced carnitine O-palmitoyltransferase level (HP:0012380)

Reduced catalase level (HP:0012517)

Reduced lysosomal acid lipase activity (HP:0031205)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410192	HP:0410192	Abnormal uridine diphosphate glucose-4-epimerase level	0	CL E G H
HP:0410192	HP:0410193	Abnormal uridine diphosphate glucose-4-epimerase level in plasma	1	CL E G H
HP:0410192	HP:0410196	Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells	1	CL E G H
HP:0410192	HP:0410195	Decreased uridine diphosphate glucose-4-epimerase level in plasma	2	CL E G H
HP:0410192	HP:0410194	Increased uridine diphosphate glucose-4-epimerase level in plasma	2	CL E G H
HP:0410192	HP:0410198	Decreased uridine diphosphate glucose-4-epimerase level in red blood cells	2	CL E G H
HP:0410192	HP:0410197	Increased uridine diphosphate glucose-4-epimerase level in red blood cells	2	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.

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