OBO ID: DOID:0112062
Term Name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia Search Ontology:
Synonyms:
  • IMD73C
Definition: A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. https://pubmed.ncbi.nlm.nih.gov/25512081/
References:
Ontology: Human Disease   ( DOID:0112062 )
Relationships
is a type of:
OTHER immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RAC2 ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia 618987
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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