| Metadata | |
|---|---|
| ID | DOID:0111537 |
| Name | paroxysmal extreme pain disorder |
| 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. https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder, https://www.ncbi.nlm.nih.gov/pubmed/17145499 |
| Xrefs |
SNOMEDCT_US_2023_03_01:699190008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
familial rectal pain [EXACT] PEPD [EXACT] PEXPD [EXACT] submandibular, ocular and rectal pain with flushing [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |