| Metadata | |
|---|---|
| ID | DOID:0060591 |
| Name | WHIM syndrome 1 |
| 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 |
SNOMEDCT_US_2023_03_01:234571003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
warts, hypogammaglobulinemia, infections, and myelokathexis [EXACT] warts-hypogammaglobulinemia-infections-myelokathexis syndrome [EXACT] WHIMS [EXACT] |
| Parent Relationships |