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:
Generalized non-motor (absence) seizure (HP:0002121)

Parent Node:
Typical absence seizure (HP:0011147)

..Starting node
..Early onset absence seizures (HP:0011152)

Term ID:

11152

Name:

Early onset absence seizures

Synonym:

Early onset petit mal seizures

Definition:

Typical absence seizures starting before the age of 4 years.

Comments:

Reference:

HP:0011152

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:0011152	HP:0011152	Early onset absence seizures	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0011152	HP:0011152	Early onset absence seizures	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	227
HP:0011152	HP:0011152	Early onset absence seizures	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0011152	HP:0011152	Early onset absence seizures	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent	6

Genes (4) :ALDH4A1 ALDH7A1 DPM1 PLPBP

Diseases (3) :ORPHA:79101 ORPHA:3006 ORPHA:79322

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