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:
Adrenal overactivity (HP:0002717)

Parent Node:
Hyperaldosteronism (HP:0000859)

..Starting node
..Primary hyperaldosteronism (HP:0011736)

Term ID:

11736

Name:

Primary hyperaldosteronism

Synonym:

Definition:

A form of hyperaldosteronism caused by a defect within the adrenal gland.

Comments:

Reference:

HP:0011736

Genes and Diseases:

Child Nodes:

........

Dexamethasone-suppresible primary hyperaldosteronism (HP:0011739)

........

Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)

Sister Nodes:

Secondary hyperaldosteronism (HP:0011741)

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:0011736	HP:0011736	Primary hyperaldosteronism	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0011736	HP:0011736	Primary hyperaldosteronism	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0011736	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040281 - Very frequent	44
HP:0011736	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	112
HP:0011736	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	73
HP:0011736	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0011736	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0011736	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0011736	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57

Genes (10) :CACNA1D CLCN2 CLCNKB CYP11B1 CYP11B2 KCNJ5 SCNN1A SCNN1B SCNN1G SLC12A3

Diseases (6) :OMIM:615474 ORPHA:404 ORPHA:358 ORPHA:403 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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