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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Fucosidosis
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Fucosidosis
UMLS_CUI
  • C0016788
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Fucosidosis
FULL_SYN
  • FucosidosisPTNCI
  • FucosidosisPTNICHD
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
code
  • C61274
http://linked.open...y/mesh/hasConcept
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