| Metadata | |
|---|---|
| ID | DOID:0080217 |
| Name | lysosomal acid lipase deficiency |
| Definition | 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. https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/, https://www.ncbi.nlm.nih.gov/books/NBK395569/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:275761 exactMatch MIM:PS278000 exactMatch UMLS_CUI:C5574740 exactMatch GARD:12097 broadMatch ICD10CM:E75.5 |
| Subsets |
DO_rare_slim |
| Synonyms |
LAL deficiency [EXACT] LAL-D [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |