Human Phenotype Ontology

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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

Grandparent Node:
Abnormality of circulating cortisol level (HP:0011731)

Grandparent Node:
Adrenal overactivity (HP:0002717)

Parent Node:
Increased circulating cortisol level (HP:0003118)

..Starting node
..Elevated serum 11-deoxycortisol (HP:0025436)

Term ID:

25436

Name:

Elevated serum 11-deoxycortisol

Synonym:

Elevated serum 21-hydroxyprogesterone; Elevated serum deoxycorticosterone

Definition:

Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.

Comments:

Reference:

HP:0025436

Genes and Diseases:

Child Nodes:

Sister Nodes:

Primary hypercortisolism (HP:0001579)

Secondary hypercortisolism (HP:0011744)

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:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0025436	HP:0025436	Elevated serum 11-deoxycortisol	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (8) :CDKN2A CTNNB1 CYP11B1 CYP11B2 PRKAR1A TERT TP53 ZNRF3

Diseases (3) :ORPHA:1501 OMIM:202010 ORPHA:556030

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

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