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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:lysosomal lipid storage disorder
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Accession:EFO:MONDO:0019245 term browser browse the term
Definition: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.
Synonyms:exact_synonym: 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_synonym: lipidoses;   lipidosis;   lipoidoses;   lipoidosis
 alt_id: MONDO:0019245
 xref: DOID:9455;   GARD:12511;   ICD9:272.7;   ICD9:272.8;   MEDGEN:9780;   MESH:D008064;   ORDO:79204;   SCTID:10741005;   UMLS:C0023794
 external_ontology: disease_disrupts EFO:GO:0016042


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  cerebral lipidosis with dementia + 0
                  lysosomal acid lipase deficiency + 0
                  neuronal ceroid lipofuscinosis + 0
                  neutral lipid storage disease + 0
                  sphingolipidosis + 0
                  xanthomatosis + 0
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