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Metadata
ID DOID:0060591
Name WHIM syndrome
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.
https://en.wikipedia.org/wiki/WHIM_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/10767001
Xrefs

GARD:9297

MESH:C536697

OMIM:193670

UMLS_CUI:C0472817

Synonyms

warts, hypogammaglobulinemia, infections, and myelokathexis [EXACT]

warts-hypogammaglobulinemia-infections-myelokathexis syndrome [EXACT]

WHIMS [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

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