Metadata | |
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ID | DOID:0061084 |
Name | immunodeficiency 118 |
Definition | A primary immunodeficiency disease that is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination and that has_material_basis_in hemizygous mutation in the MCTS1 gene on chromosome Xq24. https://pubmed.ncbi.nlm.nih.gov/37875108/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance existence starts during some Infantile onset |