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Cigarette Smoke Exposure Ontology
Last uploaded:
July 10, 2014
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| Preferred Name | Niemann-Pick Disease | |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Niemann-Pick_Disease |
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| DEFINITION |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
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| isDefinedBy |
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
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| label |
Niemann-Pick Disease
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| prefixIRI |
Thesaurus:Niemann-Pick_Disease
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| prefLabel |
Niemann-Pick Disease
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lysosomal_Storage_Disease http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Lipid_Metabolism_Disorder |
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