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ENReticular Dysgenesis (RDYS)
Alias:
De Vaal Disease
Severe Combined Immunodeficiency with Leukopenia
Aleukocytosis
Hematopoietic Hypoplasia, Generalized
Generalized Hematopoietic Hypoplasia
Congenital Aleukocytosis
Scid with Leukopenia
Congenital Aleukia
Ak2 Deficiency
Reticular Dysgenesia
Rdys
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Reticular Dysgenesis, also known as de vaal disease, is related to immunoerythromyeloid hypoplasia and lymphopenia. An important gene associated with Reticular Dysgenesis is AK2 (Adenylate Kinase 2), and among its related pathways/superpathways are Metabolism and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include thymus and bone marrow, and related phenotypes are hearing impairment and chronic otitis media
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MALACARDS
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