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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

GARD:7899

ICD10CM:E75.5

MESH:D015223

MIM:620151

NCI:C61271

ORDO:75233

SNOMEDCT_US_2023_03_01:82500001

UMLS_CUI:C0043208

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

is_a lysosomal acid lipase deficiency

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