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 18-hydroxycortisone level (HP:0020200)

Term ID:

20200

Name:

Increased circulating 18-hydroxycortisone level

Synonym:

Definition:

An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.

Comments:

Reference:

HP:0020200

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:0020200	HP:0020200	Increased circulating 18-hydroxycortisone level	0	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.