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 endocrine physiology (HP:0031072)

Parent Node:
Abnormal response to glucagon stimulation test (HP:0031080)

..Starting node
..Excessive insulin response to glucagon test (HP:0031084)

Term ID:

31084

Name:

Excessive insulin response to glucagon test

Synonym:

Definition:

An abnormally high increase in insulin levels following a glucagon stimulation test.

Comments:

Reference:

HP:0031084

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired cortisol response to glucagon stimulation test (HP:0031081)

Impaired growth-hormone response to glucagon stimulation test (HP:0031082)

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:0031084	HP:0031084	Excessive insulin response to glucagon test	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0031084	HP:0031084	Excessive insulin response to glucagon test	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0031084	HP:0031084	Excessive insulin response to glucagon test	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0031084	HP:0031084	Excessive insulin response to glucagon test	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent	15

Genes (4) :ABCC8 HNF1A KCNJ11 UCP2

Diseases (4) :ORPHA:276575 ORPHA:324575 ORPHA:276580 ORPHA:276556

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