Search Ontology:
Human Disease
Wolman disease
- Term ID
- DOID:14497
- Synonyms
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- Acid esterase deficiency
- Acid lipase deficiency
- acute infantile lysosomal acid lipase deficiency
- 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. (2)
- References
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- GARD:7899
- ICD10CM:E75.5
- MESH:D015223
- Ontology
- Human Disease ( DOID:14497 )
- is a type of
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Genes Involved
Zebrafish Models