Immunodeficiency 51
Disease ID: disease_node_20453
Connections displayed (default: 10).
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| Dbxref | MIM:613953 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | CANDF5, IMD51, familial candidiasis 5 |
| Doid Label | immunodeficiency 51 |
| Doid Description | 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 the IL17RA gene on chromosome 22q11.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20453 |
| Doid Id | DOID_0111996 |
| Label | Immunodeficiency 51 |
- 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)