loading...| Preferred Name | Nijmegen Breakage Syndrome | |
| Synonyms |
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| 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) |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C4692 |
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| code |
C4692 |
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| Contributing_Source |
Cellosaurus CCPS |
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| 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) |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C177516 |
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| label |
Nijmegen Breakage Syndrome |
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| Legacy Concept Name |
Nijmegen_Breakage_Syndrome |
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| Preferred_Name |
Nijmegen Breakage Syndrome |
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| prefixIRI |
NCIT:C4692 |
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| prefLabel |
Nijmegen Breakage Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0398791 |
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| subClassOf |