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DOID:0112001 - immunodeficiency 50
Disease Ontology Definition:A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
Synonyms: CID due to Moesin deficiency, combined immunodeficiency due to Moesin deficiency, IMD50, immunodeficiency 50 X linked recessive, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency
Xenbase Genes
:
msn
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
combined immunodeficiency (is_a)