Search Ontology:
Human Disease

WHIM syndrome 1

Term ID
DOID:0060591
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models