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Metadata
ID DOID:0111729
Name familial episodic pain syndrome 1
Definition A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13.
https://www.ncbi.nlm.nih.gov/pubmed/20547126
Xrefs

OMIM:615040

ORDO:391389

Subsets

DO_rare_slim

Synonyms

FEPS1 [EXACT]

Parent Relationships

is_a familial episodic pain syndrome

is_a autosomal dominant disease

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