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
..Right hemiplegia (HP:0040293)

Term ID:

40293

Name:

Right hemiplegia

Synonym:

Hemiplegia (right)

Definition:

Comments:

Reference:

HP:0040293

Genes and Diseases:

Child Nodes:

Sister Nodes:

Episodic hemiplegia (HP:0012194)

Left hemiplegia (HP:0040292)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040293	HP:0040293	Right hemiplegia	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	54

Genes (1) :COQ2

Diseases (1) :OMIM:607426

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