GenTIGSA Gene Database on Rare Genetic Disorders
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Niemann-Pick Disease, Type B  
Disease Aliases (27)

Acid sphingomyelinase deficiency, visceral type

Asmd, visceral type

Chronic visceral asmd

Niemann-pick disease, intermediate, with visceral involvement and rapid progression

Niemann-pick disease, type e

Niemann-pick disease, type f

Npd-b

Niemann pick disease, adult non neuronopathic

Niemann pick disease, non neuronopathic type

Niemann pick disease, type b

Niemann pick disease, type e

Niemann pick disease, visceral

Niemann pick disease type b

Niemann pick's disease type b

Niemann pick's disease type e

Niemann-pick disease, type b

Niemann-pick disease, adult non-neuronopathic

Niemann-pick disease, non-neuronopathic type

Niemann-pick disease, visceral

Niemann-pick disease non-neuropathic type

Niemann-pick disease type b

Niemann-pick disease type e

Niemann-pick disease, chronic non-neuronopathic

Niemann-pick's disease type b

Niemann-pick's disease type e

Type b niemann pick disease

Type b niemann-pick disease

Associated Genes (1)
 

NCBI-RefSeq:  SMPD1   (Sphingomyelin phosphodiesterase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Niemann-Pick disease, type B OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations