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:
Abnormality of the adrenal glands (HP:0000834)

Parent Node:
Abnormality of adrenal physiology (HP:0011733)

..Starting node
..Pseudohypoaldosteronism (HP:0008242)

Term ID:

8242

Name:

Pseudohypoaldosteronism

Synonym:

Definition:

A state of renal tubular unresponsiveness or resistance to the action of aldosterone.

Comments:

Reference:

HP:0008242

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenal insufficiency (HP:0000846)

Adrenal overactivity (HP:0002717)

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:0008242	HP:0008242	Pseudohypoaldosteronism	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0008242	HP:0008242	Pseudohypoaldosteronism	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0008242	HP:0008242	Pseudohypoaldosteronism	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0008242	HP:0008242	Pseudohypoaldosteronism	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0008242	HP:0008242	Pseudohypoaldosteronism	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0008242	HP:0008242	Pseudohypoaldosteronism	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71

Genes (6) :CUL3 KLHL3 NR3C2 SCNN1A WNK1 WNK4

Diseases (6) :OMIM:614496 OMIM:614495 OMIM:177735 OMIM:264350 OMIM:614492 OMIM:614491

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