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Summary Literature (0)
DOID:0060020 - reticular dysgenesis

Disease 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.

Synonyms: aleukocytosis, De Vaal disease

Xenbase Genes : ak2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009973 - ureterovesical junction

MIM:
MIM:267500 - RETICULAR DYSGENESIS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)