OBO ID: DOID:0111731 |
Term Name: | familial episodic pain syndrome 3 | Search Ontology: | |
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Synonyms: |
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Definition: | A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. https://www.ncbi.nlm.nih.gov/pubmed/24207120 | ||
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Ontology: | Human Disease ( DOID:0111731 ) |
OTHER familial episodic pain syndrome 3 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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SCN11A | Episodic pain syndrome, familial, 3 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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