Preferred Name |
Fucosidosis |
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Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fucosidosis |
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DEFINITION |
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. |
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isDefinedBy |
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. |
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label |
Fucosidosis |
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prefixIRI |
Thesaurus:Fucosidosis |
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prefLabel |
Fucosidosis |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lysosomal_Storage_Disease |
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