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) Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C4692" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C4692" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000725398 |
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| Associated disease | ||
| cui |
C0398791 |
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| DATE FIRST PUBLISHED |
2012-02-13 |
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| Date last modified |
2014-03-14 |
|
| 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) Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C4692" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C4692" NCI Thesaurus) |
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| NCI ID |
C4692 |
|
| notation |
CDR0000725398 |
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| ORIG STY |
Genetic condition |
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| prefLabel |
Nijmegen breakage syndrome |
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| tui |
T047 |
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| subClassOf |