Familial Cold Autoinflammatory Syndrome 1
Disease ID: disease_node_15592
Connections displayed (default: 10).
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| Dbxref | ICD10CM:L50.2, MIM:120100, ORDO:47045 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090061 |
| Data Source | DOID |
| Synonyms | FCAS1 |
| Doid Label | familial cold autoinflammatory syndrome 1 |
| Doid Description | A familial cold autoinflammatory syndrome characterized by autosomal domit inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15592 |
| Doid Id | DOID_0090062 |
| Label | Familial Cold Autoinflammatory Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Cold Autoinflammatory Syndrome(ID:disease_node_15589) (Disease)