#autosomal_recessive_disease__autosomalrecessivedisease__autosomal_recessive_defect__autosomalrecessivedefect a disease caused by the presence of two recessive mutant genes on an autosome
supertype: #genetic_disease__geneticdisease__genetic_disorder__geneticdisorder__genetic_abnormality__geneticabnormality__genetic_defect__geneticdefect__congenital_disease__inherited_disease__inheriteddisease__inherited_disorder__inheriteddisorder__hereditary_disease__hereditary_condition a disease or disorder that is inherited genetically
subtype: #limb-girdle_muscular_dystrophy an autosomal recessive form of muscular dystrophy characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle
subtype: #Niemann-Pick_disease a disorder of lipid metabolism that is inherited as an autosomal recessive trait
subtype: #Tay-Sachs_disease__Tay-Sachs__Sachs_disease__infantile_amaurotic_idiocy__infantileamauroticidiocy a hereditary disorder of lipid metabolism occuring most frequently in individuals of E European Jewish descent; accumulation of lipids in nervous tissue results in death in early childhood
subtype: #thrombasthenia a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results
subtype: #tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
subtype: #Werdnig-Hoffman_disease autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood
No statement uses or specializes #autosomal_recessive_disease; click here to add one.