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DO Term : paroxysmal extreme pain disorder [DOID:0111537] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • NCI:C125385,
  • familial rectal pain,
  • ORDO:46348,
  • submandibular, ocular and rectal pain with flushing,
  • PEXPD,
  • UMLS_CUI:C1833661,
  • OMIM:167400,
  • 167400,
  • SNOMEDCT_US_2023_03_01:699190008,
  • GARD:12854,
  • MESH:C563475,
  • PEPD
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Ontology Term --> Direct children

Ontology Term --> Direct parents