National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Paroxysmal Extreme Pain Disorder

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125385

code

C125385

DEFINITION

A very rare, autosomal dominant inherited disorder caused by mutations in the SCN9A gene. It is characterized by skin redness and flushing and attacks of severe pain. The pain attacks usually last seconds to minutes.

label

Paroxysmal Extreme Pain Disorder

Preferred_Name

Paroxysmal Extreme Pain Disorder

prefixIRI

C125385

prefLabel

Paroxysmal Extreme Pain Disorder

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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http://purl.bioontology.org/ontology/MESH/C563475 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0111537 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/167400 Online Mendelian Inheritance in Man LOOM