loading...| Preferred Name |
Nijmegen breakage syndrome |
| Synonyms |
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]. |
| database_cross_reference |
OMIM:251260 GARD:3904 UMLS_CUI:C0398791 ORDO:647 SNOMEDCT_US_2022_09_01:234638009 NCI:C4692 MESH:D049932 |
| 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. |
| has exact synonym |
Seemanova syndrome type 2 Seemanova syndrome II ataxia-telangiectasia variant Microcephaly, normal intelligence and immunodeficiency microcephaly-immunodeficiency-lymphoreticuloma syndrome Berlin breakage syndrome NBS immunodeficiency-microcephaly-chromosomal instability syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:7400 |
| in_subset | |
| label |
Nijmegen breakage syndrome |
| notation |
DOID:7400 |
| prefLabel |
Nijmegen breakage syndrome |
| subClassOf |