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:
Reduced consciousness/confusion (HP:0004372)

Parent Node:
Lethargy (HP:0001254)

..Starting node
..Paroxysmal lethargy (HP:0011973)

Term ID:

11973

Name:

Paroxysmal lethargy

Synonym:

Definition:

Repeated episodes of sudden-onset and transient lethargy.

Comments:

Reference:

HP:0011973

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:0011973	HP:0011973	Paroxysmal lethargy	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255

Genes (1) :SLC2A1

Diseases (1) :OMIM:606777

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