Gata2 Deficiency
Disease ID: disease_node_379
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| Dbxref | GARD:10934, MESH:D000077428, MIM:614172, NCI:C126349, ORDO:228423 |
|---|---|
| Subclassof | DOID_0050736, DOID_612 |
| Data Source | DOID, MESH |
| Synonyms | DCML, GATA2 deficiency, IMD21, MonoMAC, combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections, dendritic cell, monocyte, B and NK lymphoid deficiency, monocyte-B-natural killer-dendritic cell deficiency syndrome, monocytopenia and mycobacterial infection syndrome, monocytopenia with susceptibility to infections |
| Mesh Id | D000077428 |
| Mesh Label | GATA2 Deficiency |
| Mesh Subclassof | D030342, D009190 |
| Doid Label | immunodeficiency 21 |
| Doid Description | A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_379 |
| Doid Id | DOID_0111947 |
| Label | Gata2 Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)