Wolman Disease
Disease ID: disease_node_8145
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| Dbxref | GARD:7899, ICD10CM:E75.5, MESH:D015223, MIM:620151, NCI:C61271, ORDO:75233, SNOMEDCT_US_2023_03_01:82500001, UMLS_CUI:C0043208 |
|---|---|
| Subclassof | DOID_0080217 |
| Data Source | DOID, MESH |
| Synonyms | Acid esterase deficiency, Acid lipase deficiency, Wolman xanthomatosis, Wolman's disease, Wolman's or triglyceride storage type III disease, Xanthomatosis, familial, acute infantile lysosomal acid lipase deficiency, complete LAL deficiency, complete LIPA deficiency, complete cholesterol ester hydrolase deficiency, complete lysosomal acid lipase deficiency |
| Mesh Id | D015223 |
| Mesh Label | Wolman Disease |
| Mesh Subclassof | D015217, D007232 |
| Doid Label | Wolman disease |
| Doid Description | 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. |
| Disease Node Id | disease_node_8145 |
| Doid Id | DOID_14497 |
| Label | Wolman Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Lysosomal Acid Lipase Deficiency(ID:disease_node_20502) (Disease)