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
..Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)

Term ID:

11740

Name:

Glucocortocoid-insensitive primary hyperaldosteronism

Synonym:

Familial primary hyperaldosteronism type 2

Definition:

A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.

Comments:

Reference:

HP:0011740

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)

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:0011740	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040281 - Very frequent	44
HP:0011740	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0011740	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0011740	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0011740	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57

Genes (5) :CLCN2 KCNJ5 SCNN1A SCNN1B SCNN1G

Diseases (3) :ORPHA:404 ORPHA:251274 ORPHA:171876

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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