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Term:
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
adrenogenital syndrome +  
cortisone reductase deficiency 
developmental and epileptic encephalopathy, 55 
disorder of phospholipids, sphingolipids and fatty acids biosynthesis +  
disorder of plasmalogens biosynthesis +  
familial hyperlipidemia +   
glucocorticoid resistance 
glycosylphosphatidylinositol biosynthesis defect 15 
glycosylphosphatidylinositol biosynthesis defect 16 
glycosylphosphatidylinositol biosynthesis defect 17 
glycosylphosphatidylinositol biosynthesis defect 18 
hypolipoproteinemia +  
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +  
inborn disorder of ketolysis +  
inherited fatty acid metabolism disorder +  
lipoid proteinosis 
lysosomal lipid storage disorder +   
mitochondrial trifunctional protein deficiency +  
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 
pancreatic triacylglycerol lipase deficiency +  
steroid inherited metabolic disorder +  
sterol metabolism disorder +  
An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process.
syndromic dyslipidemia +  

Synonyms
Exact Synonyms: inborn error of sterol metabolic process ;   inborn sterol metabolic process disorder ;   rare inborn error of sterol metabolic process
Alternate IDs: MONDO:0019256
Xrefs: GARD:18981 ;   MEDGEN:1842986 ;   ORDO:79226 ;   UMLS:C5681277
Definition Sources: MONDO:patterns/inborn_metabolic

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