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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial cold autoinflammatory syndrome 1
Summary
- 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.
- Super Class
- autosomal dominant disease familial cold autoinflammatory syndrome
External Links
- Disease Ontology
- DOID:0090062
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | |
| Q9Y251 | Heparanase |
