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

Grandparent Node:
Hyperaldosteronism (HP:0000859)

Parent Node:
Primary hyperaldosteronism (HP:0011736)

..Starting node
..Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)

Term ID:

11739

Name:

Dexamethasone-suppressible primary hyperaldosteronism

Synonym:

Familial primary hyperaldosteronism type 1; Glucocorticoid-remediable familial primary aldosteronism

Definition:

A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.

Comments:

Reference:

HP:0011739

Genes and Diseases:

Child Nodes:

Sister Nodes:

Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)

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:0011739	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	112
HP:0011739	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	73

Genes (2) :CYP11B1 CYP11B2

Diseases (1) :ORPHA:403

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