Search Ontology:
Human Disease

immunodeficiency 42

Term ID
DOID:0111940
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 the RORC gene on chromosome 1q21.3. https://pubmed.ncbi.nlm.nih.gov/26160376/
References
Ontology
Human Disease   ( DOID:0111940 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models