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:
Dialeptic seizure (HP:0011146)

Grandparent Node:
Generalized-onset seizure (HP:0002197)

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

..Starting node
..obsolete Absence seizures with special features (HP:0011148)

Term ID:

11148

Name:

obsolete Absence seizures with special features

Synonym:

Definition:

Comments:

Reference:

HP:0011148

Genes and Diseases:

Child Nodes:

........

Absence seizures with eyelid myoclonia (HP:0011149)

........

Myoclonic absences (HP:0011150)

Sister Nodes:

Atypical absence seizure (HP:0007270)

Typical absence seizure (HP:0011147)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011148	HP:0011148	obsolete Absence seizures with special features	0	CL E G H

Genes (0) :

Diseases (0) :

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