| Metadata | |
|---|---|
| ID | DOID:0061225 |
| Name | interleukin-1 receptor antagonist deficiency |
| Definition | An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14. https://www.nomidalliance.org/dira.php, https://pubmed.ncbi.nlm.nih.gov/19494218/ |
| Xrefs | |
| SKOS |
exactMatch MIM:612852 exactMatch ORDO:210115 exactMatch GARD:10516 |
| Subsets |
DO_rare_slim |
| Synonyms |
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency [EXACT] chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis [EXACT] immunoglobulin heavy chain deletion [EXACT] Sterile multifocal osteomyelitis with periostitis and pustulosis [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |