About: Gaucher Disease

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

Attributes	Values
rdf:type	Class
rdfs:label	Gaucher Disease
rdfs:subClassOf	Lysosomal Storage Diseases Lipid Metabolism Disorders
Has_NICHD_Parent	Lipid Metabolism Disorders
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Gaucher Disease
UMLS_CUI	C0017205
Contributing_Source	NICHD
Legacy_Concept_Name	Gaucher_Disease
FULL_SYN	Gaucher DiseasePTNCI Glucosylceramide Beta-Glucosidase DeficiencyPTNICHD
DEFINITION	An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.NCI
code	C61268
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0009048
is sameAs of	Gaucher Disease

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