Immunodeficiency 42
Disease ID: disease_node_20450
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| Dbxref | MIM:616622, ORDO:477857 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD42, autosomal recessive MSMD due to complete RORgamma receptor defiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, autosomal recessive primary immunodeficiency due to RORC mutation |
| Doid Label | immunodeficiency 42 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20450 |
| Doid Id | DOID_0111940 |
| Label | Immunodeficiency 42 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)