OBO ID: DOID:0111940
Term Name: immunodeficiency 42 Search Ontology:
Synonyms:
  • autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • autosomal recessive MSMD due to complete RORgamma receptor defiency
  • autosomal recessive primary immunodeficiency due to RORC mutation
  • IMD42
Definition: A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3. https://pubmed.ncbi.nlm.nih.gov/26160376/
References:
Ontology: Human Disease   (DOID:0111940)
OTHER immunodeficiency 42 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RORC Immunodeficiency 42 616622
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None