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Niemann-Pick disease
Summary
- Synonym
-
- Sphingomyelinase Deficiency Disease
- lipoid histiocytosis
- sphingomyelin lipidosis
- Definition
- A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
- Super Class
- sphingolipidosis
External Links
- Disease Ontology
- DOID:14504
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 174131 | asm-1 | Sphingomyelin phosphodiesterase 1 | |
| 176165 | ncr-2 | NPC intracellular cholesterol transporter 1 homolog 2 | |
| 176879 | asm-3 | Putative sphingomyelin phosphodiesterase asm-3;Sphingomyelin phosphodiesterase | |
| 180719 | ncr-1 | NPC intracellular cholesterol transporter 1 homolog 1 | |
| 181323 | asm-2 | Sphingomyelin phosphodiesterase 2 |
