Preferred Label : Trinucleotide Repeat;
Alternative definition : NCI-GLOSS: Sequences of 3 nucleotides repeated in tandem on the same contiguous section
of chromosome. A certain amount of normal (polymorphic) variation in repeat number
with no clinical significance commonly occurs between individuals; however, repeat
numbers over a certain threshold can, in some cases, lead to adverse effects on the
function of the gene, resulting in genetic disease.;
Codes from synonyms : CDR0000460222;
Origin ID : C94429;
UMLS CUI : C0282537;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
