loading...| Preferred Name | Nijmegen Breakage Syndrome | |
| Synonyms |
Nijmegen Breakage Syndrome |
|
| Definitions |
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) |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4692 |
|
| code |
C4692 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 |
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| Contributing_Source |
Cellosaurus CCPS |
|
| 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) |
|
| FULL_SYN |
Nijmegen Breakage Syndrome |
|
| label |
Nijmegen Breakage Syndrome |
|
| Legacy Concept Name |
Nijmegen_Breakage_Syndrome |
|
| Preferred_Name |
Nijmegen Breakage Syndrome |
|
| prefixIRI |
Thesaurus:C4692 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0398791 |
|
| subClassOf |