Monogenic Disorder
Of genetic disease. May also be referred to as monogenic disease.
An inherited disease controlled by a single pair of genes.
This concept's ID is @1~70886
Lipidosis
- Gaucher's disease
A rare chronic disorder of lipid metabolism of genetic origin.
- Tay-Sachs disease
A hereditary disorder of lipid metabolism occurring most frequently in individuals...
Autosomal Dominant Disease
- Huntington's chorea
Hereditary disease; develops in adulthood and ends in dementia.
- neurofibromatosis
Autosomal dominant disease characterized by numerous neurofibromas and by spots...
Also contains
- severe combined immunodeficiency
A congenital disease affecting T cells that can result from a mutation...
- thalassemia
An inherited form of anemia caused by faulty synthesis of hemoglobin.
- Hurler's syndrome
Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide...
- familial hypercholesterolemia
Congenital disorder characterized by high levels of cholesterol and...
- sickle-cell anemia
A congenital form of anemia occurring mostly in blacks; characterized by abnormal...
- cystic fibrosis
The most common congenital disease; the child's lungs and intestines and pancreas...