Terminology Service for NFDI4Health

Niemann-Pick Disease, Type B

Go to external page http://purl.obolibrary.org/obo/NCIT_C126866


An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form. [ ]

Term info

Label

Niemann-Pick Disease, Type B

Synonyms
  • Niemann-Pick Disease, Type B
  • Type B Niemann-Pick Disease
Preferred Name

Niemann-Pick Disease, Type B

Semantic Type

Disease or Syndrome

UMLS CUI

C0268243

code

C126866

Term relations