Search Ontology:
Human Disease
immunodeficiency 51
- Term ID
- DOID:0111996
- Synonyms
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- CANDF5
- familial candidiasis 5
- IMD51
- Definition
- A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. https://pubmed.ncbi.nlm.nih.gov/27930337/
- References
- Ontology
- Human Disease ( DOID:0111996 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models