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Disease Ontology Browser
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis (DOID:0112064)
Alliance: disease page
Synonyms: IMD73A; neutrophil immunodeficiency syndrome
Alt IDs: OMIM:608203, MESH:C564275, ORDO:183707, UMLS_CUI:C1842398
Definition: A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/17/2024
MGI 6.24 		The Jackson Laboratory