Immunodeficiency 49
Disease ID: disease_node_20001
Connections displayed (default: 10).
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| Dbxref | MIM:617237, UMLS_CUI:C4310656 |
|---|---|
| Subclassof | DOID_0050736, DOID_11200 |
| Data Source | DOID |
| Synonyms | IMD49, SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities, severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities |
| Doid Label | immunodeficiency 49 |
| Doid Description | A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20001 |
| Doid Id | DOID_0111979 |
| Label | Immunodeficiency 49 |
- Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)