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Disease Ontology Browser
reticular dysgenesis (DOID:0060020)
Alliance: disease page
Synonyms: aleukocytosis; De Vaal disease
Alt IDs: OMIM:267500, DOID:1226, MESH:C538361, NCI:C27070, UMLS_CUI:C0272167
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory