Immunodeficiency 70
Disease ID: disease_node_13306
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| Dbxref | MIM:618969 |
|---|---|
| Subclassof | DOID_0050736, DOID_628 |
| Data Source | DOID |
| Synonyms | IMD70 |
| Doid Label | immunodeficiency 70 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13306 |
| Doid Id | DOID_0112005 |
| Label | Immunodeficiency 70 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease)