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:
Abnormality of the endocrine system (HP:0000818)

Parent Node:
Abnormal endocrine physiology (HP:0031072)

..Starting node
..Abnormal response to human chorionic gonadotrophin stimulation test (HP:0031083)

Term ID:

31083

Name:

Abnormal response to human chorionic gonadotrophin stimulation test

Synonym:

Abnormal response to hCG stimulation test

Definition:

An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.

Comments:

Reference:

HP:0031083

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal response to endocrine stimulation test (HP:0031073)

Abnormal response to glucagon stimulation test (HP:0031080)

Inappropriate antidiuretic hormone secretion (HP:0031218)

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:0031083	HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76

Genes (1) :POR

Diseases (1) :ORPHA:95699

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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