Lysosomal Acid Lipase Deficiency
Disease ID: disease_node_20502
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:12097, ICD10CM:E75.5, MIM:PS278000, ORDO:275761, UMLS_CUI:C5574740 |
|---|---|
| Subclassof | DOID_0050737, DOID_9455 |
| Data Source | DOID |
| Synonyms | LAL deficiency, LAL-D |
| Doid Label | lysosomal acid lipase deficiency |
| Doid Description | A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20502 |
| Doid Id | DOID_0080217 |
| Label | Lysosomal Acid Lipase Deficiency |
- Incoming r'ship
SUBCLASS_OFto/from Wolman Disease(ID:disease_node_8145) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lipidoses(ID:disease_node_4786) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Cholesterol Ester Storage Disease(ID:disease_node_8137) (Disease)