About: Nijmegen Breakage Syndrome     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Nijmegen Breakage Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Nijmegen Breakage Syndrome
UMLS_CUI
  • C0398791
Legacy_Concept_Name
  • Nijmegen_Breakage_Syndrome
FULL_SYN
  • Nijmegen Breakage SyndromePTNCI
DEFINITION
  • 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
code
  • C4692
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