Search Ontology:
Human Disease
WHIM syndrome 1
- Term ID
- DOID:0060591
- Synonyms
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- 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
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- GARD:9297
- MESH:C536697
- MIM:193670
- NCI:C176819
- SNOMEDCT_US_2023_03_01:234571003
- UMLS_CUI:C0472817
- Ontology
- Human Disease ( DOID:0060591 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models