PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0268238|neutral lipid storage disease |
| Sentences | 2 |
| PubMedID- 23248366 | Chanarin-dorfman syndrome encompases ichthyosis with neutral lipid storage disease and systemic manifestations like myopathy, cataracts, deafness, and growth retardation. |
| PubMedID- 23042024 | neutral lipid storage disease (chanarin-dorfman syndrome) is a rare autosomal recessive disorder of lipid metabolism, characterized by systemic accumulation of neutral lipids in multiple tissues. |
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