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Summary Literature (0)
DOID:0060591 - WHIM syndrome

Disease Ontology Definition:An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

Synonyms: WHIMS, warts, hypogammaglobulinemia, infections, and myelokathexis, warts-hypogammaglobulinemia-infections-myelokathexis syndrome


In Mondo Disease Ontology:
MONDO:0008674 - WHIM syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : cxcr4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)