OBO ID: DOID:0060591
Term Name: WHIM syndrome Search Ontology:
Synonyms:
  • warts, hypogammaglobulinemia, infections, and myelokathexis
  • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
  • WHIMS
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. (2)
References:
Ontology: Human Disease   (DOID:0060591)
OTHER WHIM syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CXCR4 Myelokathexis, isolated 193670
WHIM syndrome 1 193670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None