Immunodeficiency 57
Disease ID: disease_node_20446
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| Dbxref | MIM:618108, ORDO:529977 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD57, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, immunodeficiency 57 with autoinflammation |
| Doid Label | immunodeficiency 57 |
| Doid Description | A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20446 |
| Doid Id | DOID_0111952 |
| Label | Immunodeficiency 57 |
- 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)