Immunodeficiency 71
Disease ID: disease_node_13341
Connections displayed (default: 10).
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| Dbxref | MIM:617718 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD71, PLTEID, immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| Doid Label | immunodeficiency 71 |
| Doid Description | A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13341 |
| Doid Id | DOID_0112004 |
| Label | Immunodeficiency 71 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)