About: Niemann-Pick 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	Niemann-Pick Disease
rdfs:subClassOf	Lysosomal Storage Diseases Lipid Metabolism Disorders
Has_NICHD_Parent	Autosomal Recessive Inherited Disorder Lipid Metabolism Disorders
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Niemann-Pick Disease
UMLS_CUI	C0028064
Contributing_Source	NICHD
Legacy_Concept_Name	Niemann-Pick_Disease
FULL_SYN	Sphingomyelin/Cholesterol LipidosisPTNICHD Niemann-Pick DiseasePTNCI
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.NCI
code	C61269
is rdfs:subClassOf of	Niemann-Pick Disease, Type C

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