Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	PAROXYSMAL EXTREME PAIN DISORDER
Synonyms	PEPD
ID	http://purl.bioontology.org/ontology/OMIM/167400
altLabel	PEPD RECTAL PAIN, FAMILIAL PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING PEXPD
cui	C1833661
Gene Locus	2q24
Gene Symbol	HSAN2D PN1 GEFSP7 NENA SFNP SCN9A FEB3B
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU023966 http://purl.bioontology.org/ontology/OMIM/MTHU021038 http://purl.bioontology.org/ontology/OMIM/MTHU023968 http://purl.bioontology.org/ontology/OMIM/MTHU021035 http://purl.bioontology.org/ontology/OMIM/MTHU021033 http://purl.bioontology.org/ontology/OMIM/MTHU021031 http://purl.bioontology.org/ontology/OMIM/MTHU027346 http://purl.bioontology.org/ontology/OMIM/MTHU020854 http://purl.bioontology.org/ontology/OMIM/MTHU001732 http://purl.bioontology.org/ontology/OMIM/MTHU036871 http://purl.bioontology.org/ontology/OMIM/MTHU021037 http://purl.bioontology.org/ontology/OMIM/MTHU021034 http://purl.bioontology.org/ontology/OMIM/MTHU021032 http://purl.bioontology.org/ontology/OMIM/MTHU021036 http://purl.bioontology.org/ontology/OMIM/MTHU021040 http://purl.bioontology.org/ontology/OMIM/MTHU021030 http://purl.bioontology.org/ontology/OMIM/MTHU045221 http://purl.bioontology.org/ontology/OMIM/MTHU027347
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	167400
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	PAROXYSMAL EXTREME PAIN DISORDER
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C563475	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C563475	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0111537	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125385	National Cancer Institute Thesaurus	LOOM