| Metadata | |
|---|---|
| ID | DOID:0061053 |
| Name | immunodeficiency 82 |
| Definition | A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/33782605/ |
| Xrefs | |
| Synonyms |
immunodeficiency 82 with systemic inflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |