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:
Puberty and gonadal disorders (HP:0008373)

..Starting node
..Adrenogenital syndrome (HP:0000840)

Term ID:

840

Name:

Adrenogenital syndrome

Synonym:

Definition:

Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.

Comments:

Reference:

HP:0000840

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating estrogen level (HP:0025132)

Abnormal circulating progesterone level (HP:0031212)

Abnormal circulating testosterone concentration (HP:0030087)

Absence of pubertal development (HP:0008197)

Absence of secondary sex characteristics (HP:0008187)

Androgen insufficiency (HP:0008226)

Delayed puberty (HP:0000823)

Early onset of sexual maturation (HP:0100000)

Hypogonadism (HP:0000135)

Irregular menstruation (HP:0000858)

Leydig cell insensitivity to gonadotropin (HP:0002929)

Primary gonadal insufficiency (HP:0008193)

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:0000840	HP:0000840	Adrenogenital syndrome	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0000840	HP:0000840	Adrenogenital syndrome	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0000840	HP:0000840	Adrenogenital syndrome	0	CYP17A1 CL E G H	1586	2593	OMIM:202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency	.	53
HP:0000840	HP:0000840	Adrenogenital syndrome	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0000840	HP:0000840	Adrenogenital syndrome	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45

Genes (4) :CYP11B1 CYP17A1 CYP21A2 STAR

Diseases (5) :OMIM:202010 OMIM:103900 OMIM:202110 OMIM:201910 OMIM:201710

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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