loading...| Preferred Name | Nijmegen breakage syndrome | |
| Synonyms |
ataxia-telangiectasia variant microcephaly-immunodeficiency-lymphoreticuloma syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome II NBS Berlin breakage syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_7400 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
ataxia-telangiectasia variant microcephaly-immunodeficiency-lymphoreticuloma syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome II NBS Berlin breakage syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:234638009 UMLS_CUI:C0398791 MESH:D049932 GARD:3904 MIM:251260 NCI:C4692 ORDO:647 |
|
| definition |
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 exact synonym |
ataxia-telangiectasia variant microcephaly-immunodeficiency-lymphoreticuloma syndrome Microcephaly, normal intelligence and immunodeficiency Seemanova syndrome II NBS Berlin breakage syndrome immunodeficiency-microcephaly-chromosomal instability syndrome Seemanova syndrome type 2 |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:7400 |
|
| in_subset | ||
| label |
Nijmegen breakage syndrome |
|
| notation |
DOID:7400 |
|
| note |
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]. |
|
| preferred label |
Nijmegen breakage syndrome |
|
| prefLabel |
Nijmegen breakage syndrome |
|
| subClassOf |