loading...| Preferred Name |
paroxysmal extreme pain disorder |
| Synonyms |
PEPD |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111537 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:699190008 NCI:C125385 GARD:12854 OMIM:167400 MESH:C563475 UMLS_CUI:C1833661 ORDO:46348 |
| 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. |
| has exact synonym |
PEPD submandibular, ocular and rectal pain with flushing PEXPD familial rectal pain |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111537 |
| in_subset | |
| label |
paroxysmal extreme pain disorder |
| notation |
DOID:0111537 |
| prefLabel |
paroxysmal extreme pain disorder |
| subClassOf |