|OBO ID: DOID:0060020|
|Term Name:||reticular dysgenesis||Search Ontology:|
|Definition:||A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (2)|
|Ontology:||Human Disease (DOID:0060020)|
|is a type of:||
OTHER reticular dysgenesis PAGES
PHENOTYPE No data available
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