Human Phenotype Ontology

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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:
Abnormal circulating carbohydrate concentration (HP:0011013)

Parent Node:
Abnormality of glycolysis (HP:0004366)

..Starting node
..Decreased glucosephosphate isomerase level (HP:0003568)

Term ID:

3568

Name:

Decreased glucosephosphate isomerase level

Synonym:

Decreased glucose phosphate isomerase activity; Glucosephosphate isomerase deficiency; Phosphohexose isomerase deficiency

Definition:

A decreased level of glucose-6-phosphate isomerase.

Comments:

Reference:

HP:0003568

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum pyruvate (HP:0003542)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003568	HP:0003568	Decreased glucosephosphate isomerase level	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12

Genes (1) :GPI

Diseases (1) :OMIM:613470

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