Immunodeficiency 50
Disease ID: disease_node_13343
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:300988, ORDO:504530 |
|---|---|
| Subclassof | DOID_0080012, DOID_0111962 |
| Data Source | DOID |
| Synonyms | CID due to Moesin deficiency, IMD50, MSN-related combined immunodeficiency, X-linked Moesin-associated immunodeficiency, combined immunodeficiency due to Moesin deficiency, immunodeficiency 50 X linked recessive |
| Doid Label | immunodeficiency 50 |
| Doid Description | A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13343 |
| Doid Id | DOID_0112001 |
| Label | Immunodeficiency 50 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease)