| Metadata | |
|---|---|
| ID | DOID:0061055 |
| Name | immunodeficiency 85 |
| Definition | A primary immunodeficiency disease characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life that has_material_basis_in heterozygous mutation in the TOM1 gene on chromosome 22q12. https://pubmed.ncbi.nlm.nih.gov/31263572/ |
| Xrefs | |
| Synonyms |
immunodeficiency 85 and autoimmunity [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance existence starts during some Pediatric onset |