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:
Early onset of sexual maturation (HP:0100000)

Parent Node:
Precocious puberty (HP:0000826)

..Starting node
..Precocious puberty in males (HP:0008185)

Term ID:

8185

Name:

Precocious puberty in males

Synonym:

Early onset of puberty in males; Male precocious puberty

Definition:

The onset of puberty before the age of 9 years in boys.

Comments:

Reference:

HP:0008185

Genes and Diseases:

Child Nodes:

Sister Nodes:

Isosexual precocious puberty (HP:0008236)

Precocious puberty in females (HP:0010465)

Precocious puberty with Sertoli cell tumor (HP:0008204)

Premature pubarche (HP:0012411)

Premature thelarche (HP:0010314)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008185	HP:0008185	Precocious puberty in males	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	112
HP:0008185	HP:0008185	Precocious puberty in males	0	LHCGR CL E G H	3973	6585	OMIM:176410	Precocious puberty, male	67

Genes (2) :CYP11B1 LHCGR

Diseases (2) :OMIM:202010 OMIM:176410

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