Whim Syndrome 2
Disease ID: disease_node_20461
Connections displayed (default: 10).
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| Dbxref | MIM:619407 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2 |
| Doid Label | WHIM syndrome 2 |
| Doid Description | An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20461 |
| Doid Id | DOID_0060973 |
| Label | Whim Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)