Immunodeficiency 66
Disease ID: disease_node_20452
Connections displayed (default: 10).
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| Dbxref | MIM:618847 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD66 |
| Doid Label | immunodeficiency 66 |
| Doid Description | A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20452 |
| Doid Id | DOID_0111998 |
| Label | Immunodeficiency 66 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)