s/n14162275

Information
has gloss	(noun) a disease caused by the presence of two recessive mutant genes on an autosome autosomal recessive disease, autosomal recessive defect
lexicalization	eng: autosomal recessive defect
lexicalization	eng: autosomal recessive disease
subclass of	(noun) a disease or disorder that is inherited genetically inherited disease, genetic disorder, hereditary condition, inherited disorder, congenital disease, genetic abnormality, genetic defect, hereditary disease, genetic disease
has subclass	(noun) 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 limb-girdle muscular dystrophy
has subclass	(noun) a disorder of lipid metabolism that is inherited as an autosomal recessive trait Niemann-Pick disease
has subclass	(noun) a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood Tay-Sachs disease, Sachs disease, infantile amaurotic idiocy, Tay-Sachs
has subclass	(noun) a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results thrombasthenia
has subclass	(noun) autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation tyrosinemia
has subclass	(noun) 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 Werdnig-Hoffman disease

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Language:	(ISO 639-3 code, e.g. "eng" for English)

s/n14162275

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