Autosomal Recessive Disease
Of genetic disease. May also be referred to as autosomal recessive defect.
A disease caused by the presence of two recessive mutant genes on an autosome.
This concept's ID is @1~71319
Lipidosis
- Niemann-Pick disease
A disorder of lipid metabolism that is inherited as an autosomal recessive...
- Tay-Sachs disease
A hereditary disorder of lipid metabolism occurring most frequently in individuals...
Also contains
- thrombasthenia
A rare autosomal recessive disease in which the platelets do not produce clots in...
- Werdnig-Hoffman disease
Autosomal recessive disease in which the degeneration of spinal nerve cells...
- limb-girdle muscular dystrophy
An autosomal recessive form of muscular dystrophy that appears anywhere...
- tyrosinemia
Autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances...