loading...| Preferred Name |
Trinucleotide Repeat Expansion |
| Synonyms |
Repeat Expansions, Trinucleotide |
| Definitions |
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. |
| ID |
http://purl.bioontology.org/ontology/MESH/D019680 |
| altLabel |
Repeat Expansions, Trinucleotide Expanded Trinucleotide Repeat Expansion, Trinucleotide Repeat Repeat Expansion, Trinucleotide Trinucleotide Repeat Expansions Trinucleotide Repeat, Expanded Repeat, Expanded Trinucleotide Expansions, Trinucleotide Repeat Trinucleotide Repeats, Expanded Expanded Trinucleotide Repeats Repeats, Expanded Trinucleotide |
| AQL |
DE ES GE IM PH RE |
| cui |
C0524894 |
| DC |
1 |
| definition |
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs. |
| DX |
19980101 |
| FX |
D020132 D043283 D009223 D002873 D005600 |
| HN |
99(98) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000941 http://purl.bioontology.org/ontology/MESH/Q000187 http://purl.bioontology.org/ontology/MESH/Q000528 http://purl.bioontology.org/ontology/MESH/Q000235 |
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D020132 http://purl.bioontology.org/ontology/MESH/D009223 http://purl.bioontology.org/ontology/MESH/D043283 |
| Machine permutation |
99; see DNA SEQUENCE, UNSTABLE 1998 |
| MDA |
19970620 |
| MMR |
20160617 |
| MN |
G02.111.570.080.708.800.140.865 G02.111.570.080.708.800.500.850.200 G05.558.220.865 G05.360.340.024.850.500.850.200 G05.365.590.220.865 G05.360.340.024.189.220.865 G05.360.080.708.800.074.865 G05.360.080.708.800.500.850.200 |
| notation |
D019680 |
| prefLabel |
Trinucleotide Repeat Expansion |
| TERMUI |
T528267 T058518 |
| TH |
NLM (1998) NLM (2004) |
| tui |
T049 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/SO_0002165 | Sequence Types and Features Ontology | LOOM | |
| http://purl.obolibrary.org/obo/SO_0002165 | Human Disease Ontology 123 | LOOM |