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Ontology Browser
Term:
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 +  
disorder of sialic acid metabolism +  
familial hyperlipidemia +   
glucocorticoid resistance 
glycoprotein storage disease 
glycoproteinosis +  
glycosylphosphatidylinositol biosynthesis defect 15 
glycosylphosphatidylinositol biosynthesis defect 16 
glycosylphosphatidylinositol biosynthesis defect 17 
glycosylphosphatidylinositol biosynthesis defect 18 
hereditary spastic paraplegia 48 
hypolipoproteinemia +  
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +  
inborn disorder of ketolysis +  
inborn disorder of lysosomal amino acid transport +  
inherited fatty acid metabolism disorder +  
late infantile neuronal ceroid lipofuscinosis +  
lipoid proteinosis 
lysosomal acid phosphatase deficiency 
lysosomal glycogen storage disease +  
lysosomal lipid storage disorder +   
An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.
mitochondrial trifunctional protein deficiency +  
mucopolysaccharidosis +  
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 
pancreatic triacylglycerol lipase deficiency +  
pycnodysostosis 
steroid inherited metabolic disorder +  
sterol metabolism disorder +  
syndromic dyslipidemia +   

Synonyms
Exact Synonyms: inborn error of lipid storage ;   inborn lipid storage disorder ;   lipid storage disease ;   lipoid storage diseas ;   lipoid storage disease ;   lipoid storage disorder ;   rare inborn error of lipid storage
Related Synonyms: lipidoses ;   lipidosis ;   lipoidoses ;   lipoidosis
Alternate IDs: MONDO:0019245
Xrefs: DOID:9455 ;   GARD:12511 ;   ICD9:272.7 ;   ICD9:272.8 ;   MEDGEN:9780 ;   MESH:D008064 ;   ORDO:79204 ;   SCTID:10741005 ;   UMLS:C0023794
External Ontologys: disease_disrupts EFO:GO:0016042
Definition Sources: PMID:21502308, Wikipedia:Lipid_storage_disorder

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