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:
Tetraplegia/tetraparesis (HP:0030182)

Parent Node:
Tetraplegia (HP:0002445)

..Starting node
..Episodic quadriplegia (HP:0200072)

Term ID:

200072

Name:

Episodic quadriplegia

Synonym:

Quadriplegia, episodic

Definition:

Intermittent episodes of paralysis of all four limbs.

Comments:

Reference:

HP:0200072

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:0200072	HP:0200072	Episodic quadriplegia	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	.	239
HP:0200072	HP:0200072	Episodic quadriplegia	0	ATP1A3 CL E G H	478	801	OMIM:614820	Alternating hemiplegia of childhood 2	.	150

Genes (2) :ATP1A2 ATP1A3

Diseases (2) :OMIM:104290 OMIM:614820

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