Human Phenotype Ontology

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:
Early onset of sexual maturation (HP:0100000)

Parent Node:
Precocious puberty (HP:0000826)

..Starting node
..Precocious puberty in females (HP:0010465)

Term ID:

10465

Name:

Precocious puberty in females

Synonym:

Definition:

The onset of puberty before the age of 8 years in girls.

Comments:

Reference:

HP:0010465

Genes and Diseases:

Child Nodes:

Sister Nodes:

Isosexual precocious puberty (HP:0008236)

Precocious puberty in males (HP:0008185)

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010465	HP:0010465	Precocious puberty in females	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	85
HP:0010465	HP:0010465	Precocious puberty in females	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0010465	HP:0010465	Precocious puberty in females	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	105
HP:0010465	HP:0010465	Precocious puberty in females	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	11
HP:0010465	HP:0010465	Precocious puberty in females	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	48
HP:0010465	HP:0010465	Precocious puberty in females	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0010465	HP:0010465	Precocious puberty in females	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare
HP:0010465	HP:0010465	Precocious puberty in females	0	GRIA1 CL E G H	2890	4571	OMIM:619931			3
HP:0010465	HP:0010465	Precocious puberty in females	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040284 - Very rare	42

Genes (9) :AGPAT2 ALMS1 BSCL2 CAV1 CAVIN1 CYP17A1 FOS GRIA1 PPARG

Diseases (4) :ORPHA:528 ORPHA:64 ORPHA:90793 OMIM:619931

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