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 response to endocrine stimulation test (HP:0031073)

Parent Node:
Abnormal response to insulin tolerance test (HP:0031075)

..Starting node
..Impaired cortisol response to insulin stimulation test (HP:0031076)

Term ID:

31076

Name:

Impaired cortisol response to insulin stimulation test

Synonym:

Definition:

Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).

Comments:

Reference:

HP:0031076

Genes and Diseases:

Child Nodes:

Sister Nodes:

Impaired growth-hormone response to insulin stimulation test (HP:0031079)

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:0031076	HP:0031076	Impaired cortisol response to insulin stimulation test	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0031076	HP:0031076	Impaired cortisol response to insulin stimulation test	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0031076	HP:0031076	Impaired cortisol response to insulin stimulation test	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0031076	HP:0031076	Impaired cortisol response to insulin stimulation test	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0031076	HP:0031076	Impaired cortisol response to insulin stimulation test	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85

Genes (5) :MC2R MRAP NNT STAR TXNRD2

Diseases (1) :ORPHA:361

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