Immunodeficiency 36
Disease ID: disease_node_13302
Connections displayed (default: 10).
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| Dbxref | MIM:616005, NCI:C176703, UMLS_CUI:C4014934 |
|---|---|
| Subclassof | DOID_0050736, DOID_628 |
| Data Source | DOID |
| Synonyms | IMD36, activated phosphoinositide 3-kinase delta syndrome 2 |
| Doid Label | immunodeficiency 36 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13302 |
| Doid Id | DOID_0111949 |
| Label | Immunodeficiency 36 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)