loading...| Preferred Name |
Haploinsufficiency |
|
| Synonyms |
Haploinsufficiencies |
|
| Definitions |
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D057895 |
|
| altLabel |
Haploinsufficiencies |
|
| AQL |
DE GE IM PH RE |
|
| cui |
C2936267 |
|
| DC |
1 |
|
| definition |
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. |
|
| DX |
20110101 |
|
| HN |
2011 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000502 http://purl.bioontology.org/ontology/MESH/Q000187 |
|
| Machine permutation |
2011 |
|
| MDA |
20100625 |
|
| MN |
G05.365.590.029.530.587 G05.380.350.500 |
|
| notation |
D057895 |
|
| prefLabel |
Haploinsufficiency |
|
| TERMUI |
T758792 |
|
| TH |
NLM (2011) |
|
| tui |
T049 |
|
| subClassOf |