Disease_Mapped_To_Gene
SMPD1 Gene
Niemann-Pick Disease, Type A
An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease.
C0268242
C126561
Cellosaurus
Disease or Syndrome
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A
Cellosaurus Disease Terminology
Cellosaurus Terminology
Niemann-Pick Disease