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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Ketosis (HP:0001946)

..Starting node
..Hyperketonemia (HP:0410175)

Term ID:

410175

Name:

Hyperketonemia

Synonym:

Elevated circulating ketone body concentration; Increased level of ketone bodies in blood; Ketonemia

Definition:

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.

Comments:

Reference:

HP:0410175

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ketoacidosis (HP:0001993)

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:0410175	HP:0410175	Hyperketonemia	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0410175	HP:0410175	Hyperketonemia	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0410175	HP:0410175	Hyperketonemia	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	54
HP:0410175	HP:0410175	Hyperketonemia	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent	48
HP:0410175	HP:0410175	Hyperketonemia	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0410175	HP:0033408	Elevated circulating acetoacetic acid concentration	1	CL E G H
HP:0410175	HP:0032533	Elevated circulating acetone concentration	1	CL E G H

Genes (5) :COX6B1 GCDH PHKA2 PHKG2 SLC37A4

Diseases (4) :OMIM:619051 OMIM:231670 ORPHA:264580 OMIM:232240

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