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Disease Ontology Browser
WHIM syndrome 1 (DOID:0060591)
Alliance: disease page
Synonyms: warts, hypogammaglobulinemia, infections, and myelokathexis; warts-hypogammaglobulinemia-infections-myelokathexis syndrome; WHIMS
Alt IDs: OMIM:193670, MESH:C536697, NCI:C176819, UMLS_CUI:C0472817
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory