WHIM syndrome 1

Summary

DOID:0060591 - WHIM syndrome 1

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cxcr4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008674 - obsolete WHIM syndrome

MONDO:0008674 - obsolete WHIM syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), primary immunodeficiency disease (is_a)