Metadata | |
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ID | DOID:0112003 |
Name | immunodeficiency 33 |
Definition | A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/31965418/, https://pubmed.ncbi.nlm.nih.gov/15356572/ |
Xrefs | |
Synonyms |
IMD33 [EXACT] X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency [EXACT] X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency [EXACT] X-linked MSMD due to IKBKG deficiency [EXACT] X-linked MSMD due to NEMO deficiency [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |