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Metadata
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/
Xrefs

MIM:301115

Parent Relationships

is_a X-linked recessive disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

existence starts during some Infantile onset

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