| Metadata | |
|---|---|
| ID | DOID:14497 |
| Name | Wolman disease |
| Definition | A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, https://www.ncbi.nlm.nih.gov/books/NBK395569/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:82500001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Acid esterase deficiency [EXACT] Acid lipase deficiency [EXACT] acute infantile lysosomal acid lipase deficiency [EXACT] complete cholesterol ester hydrolase deficiency [EXACT] complete LAL deficiency [EXACT] complete LIPA deficiency [EXACT] complete lysosomal acid lipase deficiency [EXACT] Wolman xanthomatosis [EXACT] Wolman's disease [EXACT] Wolman's or triglyceride storage type III disease [EXACT] Xanthomatosis, familial [EXACT] |
| Parent Relationships |