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Niemann-Pick disease type B
rareNiemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
- Identifiers
- MONDO:0011871 OMIM:607616Orphanet:77293
- Causal genes
- SMPD1
- Part of
- Acid sphingomyelinase deficiencyAutosomal recessive diseaseHereditary peripheral neuropathyInherited interstitial lung diseaseInterstitial lung disease specific to childhood
- Also known as
- Niemann Pick disease type B · type B Niemann-Pick disease
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