OBO ID: DOID:0111996
Term Name: immunodeficiency 51 Search Ontology:
Synonyms:
  • 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 IL17RA on chromosome 22q11.1. https://pubmed.ncbi.nlm.nih.gov/27930337/
References:
Ontology: Human Disease   (DOID:0111996)
OTHER immunodeficiency 51 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL17RA Immunodeficiency 51 613953
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None