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Metadata
ID DOID:0090064
Name familial cold autoinflammatory syndrome 3
Definition A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.
https://www.ncbi.nlm.nih.gov/pubmed/22236196
Xrefs

ICD10CM:L50.2

OMIM:614468

ORDO:300359

Subsets

DO_rare_slim

Parent Relationships

is_a familial cold autoinflammatory syndrome

is_a autosomal dominant disease

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