Immunodeficiency 72
Disease ID: disease_node_13340
Connections displayed (default: 10).
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| Dbxref | MIM:618982 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050737 |
| Data Source | DOID |
| Synonyms | immunodeficiency 72 with autoinflammation |
| Doid Label | immunodeficiency 72 |
| Doid Description | A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13340 |
| Doid Id | DOID_0112015 |
| Label | Immunodeficiency 72 |
- 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)