Allelic heterogeneity
Term · Oncology and biomedicine · MLC-T-ONC-000391
A term that describes when different mutations (changes) in a single gene cause the same disease or condition. Each mutation by itself is enough to cause the disease or condition. For example, cystic fibrosis (an inherited disorder that affects the lungs and digestive system) is caused by having one of many different mutations in the CFTR gene.
The presence of different variants at a single gene locus that cause the same or similar phenotypic expressions of a disease or condition.
| Identifier | MLC-T-ONC-000391 |
|---|---|
| Field | Oncology and biomedicine |
| References | NCI Dictionary of Cancer Terms; NCI Dictionary of Genetics Terms |
Record as JSON
{
"id": "MLC-T-ONC-000391",
"term": "Allelic heterogeneity",
"field": "Oncology and biomedicine",
"definitions": [
"A term that describes when different mutations (changes) in a single gene cause the same disease or condition. Each mutation by itself is enough to cause the disease or condition. For example, cystic fibrosis (an inherited disorder that affects the lungs and digestive system) is caused by having one of many different mutations in the CFTR gene.",
"The presence of different variants at a single gene locus that cause the same or similar phenotypic expressions of a disease or condition."
],
"references": [
"NCI Dictionary of Cancer Terms",
"NCI Dictionary of Genetics Terms"
],
"url": "https://mlchart.com/terminology/oncology/allelic-heterogeneity/"
}
Record 666 of 17,717 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.