| Metadata | |
|---|---|
| ID | DOID:0111940 |
| Name | immunodeficiency 42 |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [EXACT] autosomal recessive MSMD due to complete RORgamma receptor defiency [EXACT] autosomal recessive primary immunodeficiency due to RORC mutation [EXACT] IMD42 [EXACT] |
| Parent Relationships |