OBO ID: DOID:0090064 |
Term Name: | familial cold autoinflammatory syndrome 3 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0090064 ) |
OTHER familial cold autoinflammatory syndrome 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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