Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 circulating androgen level (HP:0030347)

Parent Node:
Abnormal circulating testosterone concentration (HP:0030087)

Parent Node:
Increased circulating androgen concentration (HP:0030348)

..Starting node
..Increased serum testosterone level (HP:0030088)

Term ID:

30088

Name:

Increased serum testosterone level

Synonym:

High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels; Increased testosterone

Definition:

An elevated circulating testosterone level in the blood.

Comments:

Reference:

HP:0030088

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating androstenedione concentration (HP:0025380)

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:0030088	HP:0030088	Increased serum testosterone level	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030088	HP:0030088	Increased serum testosterone level	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030088	HP:0030088	Increased serum testosterone level	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030088	HP:0030088	Increased serum testosterone level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional	112
HP:0030088	HP:0030088	Increased serum testosterone level	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0030088	HP:0030088	Increased serum testosterone level	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0030088	HP:0030088	Increased serum testosterone level	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0030088	HP:0030088	Increased serum testosterone level	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0030088	HP:0030088	Increased serum testosterone level	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0030088	HP:0030088	Increased serum testosterone level	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0030088	HP:0030088	Increased serum testosterone level	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0030088	HP:0030088	Increased serum testosterone level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0030088	HP:0030088	Increased serum testosterone level	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4

Genes (10) :AR CYP11B1 FSHR GNAS HSD3B2 INSR NR2F2 POLR3A PRKAR1A WNT4

Diseases (13) :ORPHA:99429 ORPHA:90797 OMIM:202010 ORPHA:90795 ORPHA:64739 ORPHA:562 ORPHA:90791 ORPHA:769 OMIM:618901 OMIM:264090 ORPHA:3455 OMIM:610489 ORPHA:247768

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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