Immunodeficiency 55
Disease ID: disease_node_13344
Connections displayed (default: 10).
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| Dbxref | MIM:617827, ORDO:505227 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD55, combined immunodeficiency due to GINS1 deficiency |
| Doid Label | immunodeficiency 55 |
| Doid Description | A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13344 |
| Doid Id | DOID_0111993 |
| Label | Immunodeficiency 55 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)