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

..Starting node
..Increased circulating corticosterone level (HP:0032362)

Term ID:

32362

Name:

Increased circulating corticosterone level

Synonym:

Definition:

An abnormally elevated concentration of corticosterone in the blood.

Comments:

Reference:

HP:0032362

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032362	HP:0032362	Increased circulating corticosterone level	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0032362	HP:0032362	Increased circulating corticosterone level	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:0032362	HP:0032362	Increased circulating corticosterone level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76

Genes (3) :CYP11B2 CYP17A1 POR

Diseases (3) :OMIM:610600 ORPHA:90793 ORPHA:95699

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