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 gonadotropin-releasing hormone stimulation test (HP:0031279)

Term ID:

31279

Name:

Abnormal response to gonadotropin-releasing hormone stimulation test

Synonym:

Abnormal response to GnRH stimulation test

Definition:

An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).

Comments:

Reference:

HP:0031279

Genes and Diseases:

Child Nodes:

........

Increased LH response to gonadotropin-releasing hormone stimulation test (HP:0031280)

Sister Nodes:

Abnormal response to ACTH stimulation test (HP:0031074)

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

Abnormal response to insulin tolerance test (HP:0031075)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031279	HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0031279	HP:0031280	Increased LH response to gonadotropin-releasing hormone stimulation test	1	CL E G H
HP:0031279	HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27

Genes (1) :NHLH2

Diseases (1) :OMIM:619755

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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