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Niemann-Pick Disease, Type A

Go to external page http://purl.obolibrary.org/obo/NCIT_C126561

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. [ ]

Term info

Label

Niemann-Pick Disease, Type A

Synonyms
  • Niemann-Pick Disease, Type A
Preferred Name

Niemann-Pick Disease, Type A

Semantic Type

Disease or Syndrome

UMLS CUI

C0268242

code

C126561

Term relations