Nijmegen Breakage Syndrome
Disease ID: disease_node_11410
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:3904, MESH:D049932, MIM:251260, NCI:C4692, ORDO:647, SNOMEDCT_US_2023_03_01:234638009, UMLS_CUI:C0398791 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Berlin breakage syndrome, Microcephaly, normal intelligence and immunodeficiency, NBS, Seemanova syndrome II, Seemanova syndrome type 2, ataxia-telangiectasia variant, immunodeficiency-microcephaly-chromosomal instability syndrome, microcephaly-immunodeficiency-lymphoreticuloma syndrome |
| Mesh Id | D049932 |
| Mesh Label | Nijmegen Breakage Syndrome |
| Mesh Subclassof | D049914 |
| Doid Label | Nijmegen breakage syndrome |
| Doid Description | A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11410 |
| Doid Id | DOID_7400 |
| Label | Nijmegen Breakage Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)