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

Term ID:

31079

Name:

Impaired growth-hormone response to insulin stimulation test

Synonym:

Definition:

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

Comments:

Reference:

HP:0031079

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031079	HP:0031079	Impaired growth-hormone response to insulin stimulation test	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4	44
HP:0031079	HP:0031079	Impaired growth-hormone response to insulin stimulation test	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	43
HP:0031079	HP:0031079	Impaired growth-hormone response to insulin stimulation test	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	36

Genes (3) :GHRHR LHX4 POU1F1

Diseases (3) :OMIM:618157 OMIM:262700 OMIM:613038

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