Search Ontology:
Human Disease
familial cold autoinflammatory syndrome 1
- Term ID
- DOID:0090062
- Synonyms
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- FCAS1
- Definition
- A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/11687797
- References
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- ICD10CM:L50.2
- MIM:120100
- ORDO:47045
- Ontology
- Human Disease ( DOID:0090062 )
- is a type of
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Genes Involved
Zebrafish Models