autosomal recessive defect
English Thesaurus
1. a disease caused by the presence of two recessive mutant genes on an autosome (noun.state)
| hyponym | : | limb-girdle muscular dystrophy, |
| definition | : | an autosomal recessive form of muscular dystrophy that appears anywhere from late childhood to middle age; characterized by progressive muscular weakness beginning either in the shoulder or pelvic girdle; usually progresses slowly with cardiopulmonary complications in the later stages (noun.state) |
| hyponym | : | niemann-pick disease, |
| definition | : | a disorder of lipid metabolism that is inherited as an autosomal recessive trait (noun.state) |
| hyponym | : | thrombasthenia, |
| definition | : | a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results (noun.state) |
| hyponym | : | tyrosinemia, |
| definition | : | autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation (noun.state) |
| hyponym | : | werdnig-hoffman disease, |
| definition | : | 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 (noun.state) |
Visual ArtiKata
Explore autosomal recessive defect in ArtiKata.com >