has material basis in germline mutation in LIPA Wolman disease https://github.com/monarch-initiative/mondo/issues/5903 https://github.com/monarch-initiative/mondo/issues/6379 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/wolman_disease OMIM:620151 liposomal acid lipase deficiency, Wolman type DOID:14497 SCTID:238074007 SCTID:82500001 NANDO:1200143 NANDO:1200142 Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. NCIT:C61271 icd11.foundation:520367511 deficiency of cholesterol esterase and triacylglycerol lipase MONDO:0019148 MESH:D015223 MESH:C564736 lysosomal acid lipase deficiency familial visceral xanthomatosis UMLS:C0043208 NANDO:2201232 primary familial xanthomatosis with adrenal calcification MedDRA:10053687 primary familial xanthomatosis GARD:0007899 MEDGEN:53088 familial xanthomatosis NANDO:2200570 Orphanet:75233 NORD:1862 Wolman's disease Wolman disease with hypolipoproteinemia and acanthocytosis lysosomal acid lipase deficiency