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:
Hemiplegia/hemiparesis (HP:0004374)

Parent Node:
Hemiplegia (HP:0002301)

..Starting node
..Episodic hemiplegia (HP:0012194)

Term ID:

12194

Name:

Episodic hemiplegia

Synonym:

Definition:

Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.

Comments:

Reference:

HP:0012194

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left hemiplegia (HP:0040292)

Right hemiplegia (HP:0040293)

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:0012194	HP:0012194	Episodic hemiplegia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	239
HP:0012194	HP:0012194	Episodic hemiplegia	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0012194	HP:0012194	Episodic hemiplegia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	150
HP:0012194	HP:0012194	Episodic hemiplegia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	449
HP:0012194	HP:0012194	Episodic hemiplegia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040281 - Very frequent	63

Genes (4) :ATP1A2 ATP1A3 CACNA1A SLC1A3

Diseases (2) :ORPHA:2131 OMIM:104290

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