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Nijmegen Breakage Syndrome

^ http://purl.obolibrary.org/obo/NCIT_C4692


A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99) [ NCI ]

Synonyms: Nijmegen Breakage Syndrome

Term info

Legacy Concept Name

Nijmegen_Breakage_Syndrome

Preferred Name

Nijmegen Breakage Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0398791

code

C4692