Immunodeficiency 11B
Disease ID: disease_node_20007
Connections displayed (default: 10).
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| Dbxref | MIM:617638, NCI:C176630, UMLS_CUI:C4539957 |
|---|---|
| Subclassof | DOID_0050736, DOID_11200 |
| Data Source | DOID |
| Synonyms | IMD11B, atopic dermatitis, elevated IgE, and eosinophilia, immunodeficiency 11B with atopic dermatitis |
| Doid Label | immunodeficiency 11B |
| Doid Description | A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20007 |
| Doid Id | DOID_0111958 |
| Label | Immunodeficiency 11B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease)