Metadata | |
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ID | DOID:0061064 |
Name | immunodeficiency 94 |
Definition | A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. https://pubmed.ncbi.nlm.nih.gov/33517393/ |
Xrefs | |
Synonyms |
immunodeficiency 94 with autoinflammation and dysmorphic facies [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Infantile onset has material basis in some autosomal dominant inheritance has material basis in some gain_of_function_variant |