Niemann-Pick disease https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/niemann_pick_disease MONDO:0001982 ICD10CM:E75.24 UMLS:C0028064 A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. MESH:D009542 SCTID:58459009 EFO:1001380 type A Niemann-Pick disease Niemann-Pick disease with cholesterol esterification block sphingomyelin/cholesterol lipidosis lipoid histiocytosis (classical phosphatide) Niemann-Pick disease, subacute juvenile form DOID:14504 NCIT:C61269 NANDO:2200561 GARD:0013334 MEDGEN:10348 icd11.foundation:398872780 non-Langerhans cell histiocytosis sphingolipidosis