Human Phenotype Ontology 
..Starting node
..expandConvulsive status epilepticus (HP:0032660)help
Term ID: 32660
Name: Convulsive status epilepticus
Synonym: Tonic-clonic status epilepticus
Definition: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus
Comments:
Reference: HP:0032660
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032660HP:0032660Convulsive status epilepticus0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0032660HP:0032660Convulsive status epilepticus0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0032660HP:0032662Focal-onset seizure evolving into bilateral convulsive status epilepticus1 CL E G H
HP:0032660HP:0032661Generalized convulsive status epilepticus1 CL E G H


Genes (2) :PEX5 VAMP2

Diseases (2) :OMIM:616716 OMIM:618760
 

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