Chromosome Fragile Site

Preferred Label : Chromosome Fragile Site;

NCIt synonyms : Fragile Site;

NCIt definition : Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. A fragile site on the X chromosome is associated with Fragile X Syndrome. Fragile sites are designated by the letters fra followed by the designation for the specific chromosome and locus.;

Alternative definition : CDISC: A heritable locus on a chromosome that is prone to DNA breakage. (HGNC);

Details

Origin ID

C13375;

UMLS CUI

C0677504;

Anatomic structure is physical part of
- Cell [NCIt concept]
- Chromosome [NCIt concept]
Automatic exact mappings (from CISMeF team)
- Fragile site [PASCAL descriptor]
Currated CISMeF NLP mapping
- chromosome fragile sites [MeSH Descriptor]
- chromosome fragile sites [MeSH concept]
Semantic type(s)
- Nucleotide Sequence [UMLS semantic type]
UMLS correspondences (same concept)
- chromosome fragile sites [MeSH concept]
- chromosome fragile sites [MeSH Descriptor]
concept_is_in_subset
- CDISC SDTM Genomic Symbol Type Response Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients