paroxysmal extreme pain disorder
Information
- Disease name
- paroxysmal extreme pain disorder
- Disease ID
- DOID:0111537
- 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." [url:https\://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder, url:https\://www.ncbi.nlm.nih.gov/pubmed/17145499]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SCN9A | 2 | 166,195,185 | 166,375,944 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:11465
- Cross Reference ID (Disease Ontology)
- GARD:12854
- Cross Reference ID (Disease Ontology)
- MESH:C563475
- Cross Reference ID (Disease Ontology)
- MIM:167400
- Cross Reference ID (Disease Ontology)
- NCI:C125385
- Cross Reference ID (Disease Ontology)
- ORDO:46348
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:699190008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1833661
- Exact Synonym (Disease Ontology)
- familial rectal pain
- Exact Synonym (Disease Ontology)
- PEPD
- Exact Synonym (Disease Ontology)
- PEXPD
- Exact Synonym (Disease Ontology)
- submandibular, ocular and rectal pain with flushing
- OrphaNumber from OrphaNet (Orphanet)
- 46348
- MedGen concept unique identifier (MedGen Concept name)
- C1833661
- MedGen unique identifier (MedGen Concept name)
- 331565