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:
Early onset of sexual maturation (HP:0100000)

Parent Node:
Precocious puberty (HP:0000826)

..Starting node
..Premature pubarche (HP:0012411)

Term ID:

12411

Name:

Premature pubarche

Synonym:

Premature pubic hair growth

Definition:

The onset of growth of pubic hair at an earlier age than normal.

Comments:

Reference:

HP:0012411

Genes and Diseases:

Child Nodes:

Sister Nodes:

Isosexual precocious puberty (HP:0008236)

Precocious puberty in females (HP:0010465)

Precocious puberty in males (HP:0008185)

Precocious puberty with Sertoli cell tumor (HP:0008204)

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:0012411	HP:0012411	Premature pubarche	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0012411	HP:0012411	Premature pubarche	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0012411	HP:0012411	Premature pubarche	0	HSD11B1 CL E G H	3290	5208	OMIM:614662	Cortisone reductase deficiency 2	HP:0040283 - Occasional	5
HP:0012411	HP:0012411	Premature pubarche	0	HSD3B2 CL E G H	3284	5218	OMIM:201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	.	34
HP:0012411	HP:0012411	Premature pubarche	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0012411	HP:0012411	Premature pubarche	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0012411	HP:0012411	Premature pubarche	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0012411	HP:0012411	Premature pubarche	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0012411	HP:0012411	Premature pubarche	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0012411	HP:0012411	Premature pubarche	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0012411	HP:0012411	Premature pubarche	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0012411	HP:0012411	Premature pubarche	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0012411	HP:0012411	Premature pubarche	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0012411	HP:0012411	Premature pubarche	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0012411	HP:0012411	Premature pubarche	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0012411	HP:0012411	Premature pubarche	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0012411	HP:0012411	Premature pubarche	0	PAPSS2 CL E G H	9060	8604	OMIM:612847	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	.	20
HP:0012411	HP:0012411	Premature pubarche	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0012411	HP:0012411	Premature pubarche	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0012411	HP:0012411	Premature pubarche	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0012411	HP:0012411	Premature pubarche	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0012411	HP:0012411	Premature pubarche	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12

Genes (13) :AIP CYP11B1 HSD11B1 HSD3B2 MAGEL2 MEN1 MKRN3 NDN OCA2 PAPSS2 SIM1 SNRPN TANGO2

Diseases (12) :ORPHA:99725 ORPHA:90795 OMIM:614662 OMIM:201810 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615346 OMIM:612847 ORPHA:398079 OMIM:616878

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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