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Ontology Browser

Term:
disorder of phospholipids, sphingolipids and fatty acids biosynthesis (EFO:MONDO:0018117)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
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 +  
syndromic dyslipidemia +  

Synonyms
Alternate IDs: MONDO:0018117
Xrefs: GARD:21516 ;   MEDGEN:1843236 ;   ORDO:352301 ;   UMLS:C5680990

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