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 blood glucose concentration (HP:0011015)

Parent Node:
Hypoglycemia (HP:0001943)

..Starting node
..Ketotic hypoglycemia (HP:0012734)

Term ID:

12734

Name:

Ketotic hypoglycemia

Synonym:

Ketotic low blood sugar

Definition:

Low blood glucose is accompanied by elevated levels of ketone bodies in the body.

Comments:

Reference:

HP:0012734

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoglycemic seizures (HP:0002173)

Hypoketotic hypoglycemia (HP:0001985)

Neonatal hypoglycemia (HP:0001998)

Nonketotic hypoglycemia (HP:0001958)

Reactive hypoglycemia (HP:0012051)

Recurrent hypoglycemia (HP:0001988)

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:0012734	HP:0012734	Ketotic hypoglycemia	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	58
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	90
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent	100
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.	74
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0012734	HP:0012734	Ketotic hypoglycemia	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85

Genes (11) :ACAD8 ACADS GYS2 HNF1A MC2R MRAP NNT PHKB SLC16A1 STAR TXNRD2

Diseases (7) :ORPHA:79159 ORPHA:26792 ORPHA:2089 ORPHA:324575 ORPHA:361 ORPHA:79240 OMIM:616095

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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