eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | niemann-pick disease |
| Symptom | C0028064|sphingomyelinase deficiency |
| Sentences | 1 |
| PubMedID- 24502382 | Sphingomyelin accumulation with or without significant sphingomyelinase deficiency are features of niemann-pick disease, of which subtypes a, c and d manifest with irreversible neurological damage. |
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