| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009588 |
| Similar Terms | |
| Downloads & Tools |
1 gene mutations causing the increased plasma membrane sphingolipid content phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| NPC1 | Niemann-Pick disease, type C1 |
