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Echinobase
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: De Vaal disease, aleukocytosis,

Echinobase Genes :


OMIM:
MIM:267500 - reticular dysgenesis

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

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