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Echinobase
Summary Literature (0)
DOID:0060591 - WHIM syndrome

Disease Ontology Definition:An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It 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,

Echinobase Genes :


OMIM:
MIM:193670 - whim syndrome

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

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