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
..Isosexual precocious puberty (HP:0008236)

Term ID:

8236

Name:

Isosexual precocious puberty

Synonym:

Definition:

Comments:

Reference:

HP:0008236

Genes and Diseases:

Child Nodes:

Sister Nodes:

Precocious puberty in females (HP:0010465)

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:0008236	HP:0008236	Isosexual precocious puberty	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0008236	HP:0008236	Isosexual precocious puberty	0	KISS1R CL E G H	84634	4510	OMIM:176400	Precocious puberty, central	.	14
HP:0008236	HP:0008236	Isosexual precocious puberty	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare	125

Genes (3) :CYP11B1 KISS1R LRP5

Diseases (3) :ORPHA:90795 OMIM:176400 ORPHA:2788

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