loading...| Preferred Name |
Sphingolipidoses |
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| Synonyms |
SPHINGOLIPID STORAGE DIS déficit en sphingomyélinase histiocytose lipoïdique essentielle sphingolipidose Maladies de surcharge en sphingolipides Sphingolipidosis |
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| Definitions |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0037899 |
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| altLabel |
SPHINGOLIPID STORAGE DIS maladie de Niemann-Pick Sphingolipidose, sans précision Sphingolipid Storage Diseases lipidose à sphingomyéline sphingomyélinose Sphingolipidosis Maladies de surcharge en sphingolipides sphingolipidose histiocytose lipoïdique essentielle déficit en sphingomyélinase |
|
| definition |
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. (source : MSH) |
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| has_severity | ||
| hiddenLabel |
Sphingolipidoses Sphingolipidoses |
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| prefixIRI |
OntoAD:C0037899 |
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| prefLabel |
Sphingolipidoses Sphingolipidoses |
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| subClassOf |