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
..Androgen insufficiency (HP:0008226)

Term ID:

8226

Name:

Androgen insufficiency

Synonym:

Hypoandrogenism

Definition:

Insufficient amount of androgenic activity.

Comments:

Reference:

HP:0008226

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)

Adrenogenital syndrome (HP:0000840)

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:0008226	HP:0008226	Androgen insufficiency	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	125
HP:0008226	HP:0008226	Androgen insufficiency	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0008226	HP:0008226	Androgen insufficiency	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040283 - Occasional	5

Genes (3) :AR LHB MAMLD1

Diseases (2) :ORPHA:95706 OMIM:228300

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.