Human Phenotype Ontology 
..Starting node
..expandSudden unexpected death in epilepsy (HP:0033258)help
Term ID: 33258
Name: Sudden unexpected death in epilepsy
Synonym: SUDEP
Definition: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.
Comments:
Reference: HP:0033258
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:0033258HP:0033258Sudden unexpected death in epilepsy0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0033258HP:0033258Sudden unexpected death in epilepsy0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0033258HP:0033258Sudden unexpected death in epilepsy0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0033258HP:0033258Sudden unexpected death in epilepsy0SHQ1 CL E G H5516425543OMIM:619922
HP:0033258HP:0033258Sudden unexpected death in epilepsy0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1


Genes (5) :GUF1 SCN1A SCN8A SHQ1 UBR7

Diseases (5) :OMIM:617065 OMIM:619317 OMIM:614558 OMIM:619922 OMIM:619189
 

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