Human Phenotype Ontology

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

..Starting node
..Abnormal circulating 18-hydroxycorticosterone level (HP:0020198)

Term ID:

20198

Name:

Abnormal circulating 18-hydroxycorticosterone level

Synonym:

Definition:

Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.

Comments:

Reference:

HP:0020198

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0020198	HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	73
HP:0020198	HP:0020199	Decreased circulating 18-hydroxycortisone level	1	CL E G H
HP:0020198	HP:0020200	Increased circulating 18-hydroxycortisone level	1	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency	73

Genes (1) :CYP11B2

Diseases (1) :OMIM:610600

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