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 endocrine stimulation test (HP:0031073)

..Starting node
..Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)

Term ID:

31077

Name:

Abnormal response to corticotropin releasing hormone stimulation test

Synonym:

Abnormal response to CRH stimulation test

Definition:

An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.

Comments:

Reference:

HP:0031077

Genes and Diseases:

Child Nodes:

........

Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)

Sister Nodes:

Abnormal response to ACTH stimulation test (HP:0031074)

Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279)

Abnormal response to insulin tolerance test (HP:0031075)

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:0031077	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	7
HP:0031077	HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	101
HP:0031077	HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	1	CL E G H

Genes (2) :ARMC5 GNAS

Diseases (1) :ORPHA:189427

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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