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Nijmegen breakage syndrome

Disease Summary
Associated Targets (3)
Tchem

2

Tbio

1


GARD Rare
Mondo Description Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
Uniprot Description A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.
Mondo Term and Equivalent IDs
MONDO:0009623:  Nijmegen breakage syndrome
GARD:0003904: 
MESH:D049932: 
NCIT:C4692: 
Orphanet:647: 
SCTID:234638009: 
UMLS:C0398791: 
UMLS:CN860323: