Preferred Name |
Fucosidosis |
|
Synonyms |
|
|
ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Fucosidosis |
|
ID |
C61274 |
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NCI_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. |
|
NCI_PT |
Fucosidosis |
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NICHD_Definition |
_ |
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prefixIRI |
Fucosidosis |
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prefLabel |
Fucosidosis |
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Subset_Association1 |
NICHD Pediatric Terminology |
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Subset_Association2 |
Neonatal Research Network Terminology |
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SYN | ||
subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Recessive_Hereditary_Disorder |
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