Public review preview. Candidate definitions have not yet been read by the two reviewers. Each entry shows its review status.
biological

Judged: two independent readers; copy check clear.

Niemann–Pick disease

Niemann–Pick disease Niemann–Pick disease is an inherited lysosomal storage disorder passed down in an autosomal recessive pattern in which too little sphingomyelinase causes sphingomyelin to build up in organs such as the liver, spleen, brain, lungs, and bone marrow.

Niemann–Pick disease is an inherited lysosomal storage disorder passed down in an autosomal recessive pattern in which too little sphingomyelinase causes sphingomyelin to build up in organs such as the liver, spleen, brain, lungs, and bone marrow. It can lead to an enlarged liver and spleen, low blood cell counts, problems with coordination and movement, and dementia.