| Metadata | |
|---|---|
| ID | DOID:0061081 |
| Name | immunodeficiency 115 |
| Definition | A primary immunodeficiency disease that is characterized by the onset of symptoms of immune dysregulation in early infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11. https://pubmed.ncbi.nlm.nih.gov/30936877/ |
| Xrefs | |
| Synonyms |
immunodeficiency 115 with autoinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal recessive inheritance |