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| Term | Wolman disease | ID (Ontology) | DOID:14497 (Human 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. | ||
| Also Known As | "Acid esterase deficiency" ; "Acid lipase deficiency" ; "acute infantile lysosomal acid lipase deficiency" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ lipid storage disease________| lysosomal acid lipase deficiency |__Wolman disease 21 rec. |
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| Is a | lysosomal acid lipase deficiency | ||
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External Crossreferences & Linkouts
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GARD:7899 ICD10CM:E75.5 MESH:D015223 MIM:620151 NCI:C61271 ORDO:75233 SNOMEDCT_US_2023_03_01:82500001 UMLS_CUI:C0043208 |
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