Metadata | |
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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 |