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 urinary 11-deoxycorticosterone level (HP:0032330)

Term ID:

32330

Name:

Increased urinary 11-deoxycorticosterone level

Synonym:

Definition:

An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.

Comments:

Reference:

HP:0032330

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:0032330	HP:0032330	Increased urinary 11-deoxycorticosterone level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0032330	HP:0032330	Increased urinary 11-deoxycorticosterone 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

Genes (2) :CYP11B1 CYP17A1

Diseases (2) :ORPHA:90795 ORPHA:90793

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