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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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory