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:
Abnormal blood potassium concentration (HP:0011042)

Parent Node:
Hypokalemia (HP:0002900)

..Starting node
..Episodic hypokalemia (HP:0012726)

Term ID:

12726

Name:

Episodic hypokalemia

Synonym:

Recurrent low potassium

Definition:

An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.

Comments:

Reference:

HP:0012726

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0012726	HP:0012726	Episodic hypokalemia	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0012726	HP:0012726	Episodic hypokalemia	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	247
HP:0012726	HP:0012726	Episodic hypokalemia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	247
HP:0012726	HP:0012726	Episodic hypokalemia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate
HP:0012726	HP:0012726	Episodic hypokalemia	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	73
HP:0012726	HP:0012726	Episodic hypokalemia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	10
HP:0012726	HP:0012726	Episodic hypokalemia	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	263

Genes (6) :ATP1A1 CACNA1S GABRA3 KCNE3 KCNJ18 SCN4A

Diseases (3) :ORPHA:564178 ORPHA:681 ORPHA:79102

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