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:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Early onset of sexual maturation (HP:0100000)

..Starting node
..Premature adrenarche (HP:0012412)

Term ID:

12412

Name:

Premature adrenarche

Synonym:

Definition:

Onset of adrenarche at an earlier age than usual.

Comments:

Reference:

HP:0012412

Genes and Diseases:

Child Nodes:

Sister Nodes:

Precocious puberty (HP:0000826)

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:0012412	HP:0012412	Premature adrenarche	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0012412	HP:0012412	Premature adrenarche	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0012412	HP:0012412	Premature adrenarche	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040283 - Occasional	34
HP:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	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:0012412	HP:0012412	Premature adrenarche	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2

Genes (9) :CYP11B1 GRB10 HSD3B2 MAGEL2 NDN OCA2 SIM1 SNRPN USP7

Diseases (8) :ORPHA:90795 ORPHA:96182 ORPHA:90791 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:398079 OMIM:616863

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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