Acid sphingomyelinase deficiency

(ASMD)

Synonym(s)
- Niemann-Pick disease type A or B
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SMPD1 / sphingomyelin phosphodiesterase 1
  11p15.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acid sphingomyelinase
Disease group(s)
- 20.1 Disorders of sphingolipid degradation
Child entries