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:
Abnormality of adrenal morphology (HP:0011732)

Parent Node:
Adrenal hyperplasia (HP:0008221)

..Starting node
..Congenital adrenal hyperplasia (HP:0008258)

Term ID:

8258

Name:

Congenital adrenal hyperplasia

Synonym:

Definition:

A type of adrenal hyperplasia with congenital onset.

Comments:

Reference:

HP:0008258

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macronodular adrenal hyperplasia (HP:0008231)

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:0008258	HP:0008258	Congenital adrenal hyperplasia	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	.	112
HP:0008258	HP:0008258	Congenital adrenal hyperplasia	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0008258	HP:0008258	Congenital adrenal hyperplasia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040281 - Very frequent	34
HP:0008258	HP:0008258	Congenital adrenal hyperplasia	0	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	76
HP:0008258	HP:0008258	Congenital adrenal hyperplasia	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45

Genes (5) :CYP11B1 CYP17A1 HSD3B2 POR STAR

Diseases (5) :OMIM:202010 ORPHA:90793 ORPHA:90791 OMIM:613571 OMIM:201710

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