OBO ID: DOID:0111537
Term Name: paroxysmal extreme pain disorder Search Ontology:
Synonyms:
  • familial rectal pain
  • PEPD
  • PEXPD
  • submandibular, ocular and rectal pain with flushing
Definition: An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (2)
References:
Ontology: Human Disease   ( DOID:0111537 )
OTHER paroxysmal extreme pain disorder PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SCN9A Paroxysmal extreme pain disorder
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None