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loading...| Preferred Name |
Nijmegen Breakage Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4692 |
| code |
C4692 |
| 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) |
| label |
Nijmegen Breakage Syndrome |
| Legacy_Concept_Name |
Nijmegen_Breakage_Syndrome |
| Preferred_Name |
Nijmegen Breakage Syndrome |
| prefixIRI |
C4692 |
| prefLabel |
Nijmegen Breakage Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0398791 |
| subClassOf |