DISEASES

Disease-gene associations mined from literature

Human genes for Nijmegen breakage syndrome

Nijmegen breakage syndrome [DOID:7400]

Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.

Synonyms:  Nijmegen breakage syndrome,  DOID:7400,  Nijmegen breakage disease,  Nijmegen breakage disorder,  Berlin breakage syndrome ...