Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Disease ID: disease_node_20259
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| Dbxref | ICD10CM:D84.8, MIM:614069 |
|---|---|
| Subclassof | DOID_0090007 |
| Data Source | DOID |
| Synonyms | ICF syndrome 2 |
| Doid Label | immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| Doid Description | An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. |
| Disease Node Id | disease_node_20259 |
| Doid Id | DOID_0090009 |
| Label | Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome(ID:disease_node_20256) (Disease)