|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||abnormal accumulation of the phospolipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis (Mammalian Phenotype Ontology, MP_0009588)|
|Downloads & Tools|
1 gene mutations causing the increased plasma membrane sphingolipid content phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
|NPC1||Niemann-Pick disease, type C1|