Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Disease ID: disease_node_20260
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| Dbxref | ICD10CM:D84.8, MIM:242860 |
|---|---|
| Subclassof | DOID_0090007 |
| Data Source | DOID |
| Synonyms | ICF syndrome 1 |
| Doid Label | immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| Doid Description | An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. |
| Disease Node Id | disease_node_20260 |
| Doid Id | DOID_0090008 |
| Label | Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome(ID:disease_node_20256) (Disease)