|
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: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)