Metadata | |
---|---|
ID | DOID:0061078 |
Name | immunodeficiency 109 |
Definition | A primary immunodeficiency disease that is characterized by onset of recurrent sinopulmonary infections in childhood and that has_material_basis_in homozygous mutation in the TNFRSF9 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/30872117/ |
Xrefs | |
Synonyms |
Immunodeficiency-109 with EBV-induced lymphoproliferation [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |