loading...| Preferred Name |
Trinucleotide Repeat Expansion |
|
| Synonyms |
Repeat Expansion, 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 Expansion, Trinucleotide Expansion, Trinucleotide Repeat Trinucleotide Repeats, Expanded Repeat, Expanded Trinucleotide Trinucleotide Repeat, Expanded Trinucleotide Repeat Expansions Expansions, Trinucleotide Repeat Repeat Expansions, Trinucleotide Repeats, Expanded Trinucleotide Expanded Trinucleotide Repeats Expanded Trinucleotide Repeat |
|
| 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 |
D043283 D020132 D009223 D002873 D005600 |
|
| HN |
99(98) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000941 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000187 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D002873 http://purl.bioontology.org/ontology/MESH/D009223 http://purl.bioontology.org/ontology/MESH/D020132 |
|
| Machine permutation |
99; see DNA SEQUENCE, UNSTABLE 1998 |
|
| MDA |
19970620 |
|
| MMR |
20160617 |
|
| MN |
G05.365.590.220.865 G05.360.080.708.800.074.865 G02.111.570.080.708.800.500.850.200 G02.111.570.080.708.800.140.865 G05.360.340.024.850.500.850.200 G05.558.220.865 G05.360.340.024.189.220.865 G05.360.080.708.800.500.850.200 |
|
| notation |
D019680 |
|
| prefLabel |
Trinucleotide Repeat Expansion |
|
| TERMUI |
T058518 T528267 |
|
| TH |
NLM (2004) NLM (1998) |
|
| tui |
T049 |
|
| subClassOf |