FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lipid storage disease ID (Ontology) DOID:9455 (Human Disease)
Definition A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.
Also Known As "inborn lipid storage disorder" ; "Lipoid storage diseas" ; "lipoidosis"
Comment
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Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lysosomal storage disease
       |__lipid storage disease  215 rec.
           |__Chanarin-Dorfman syndrome 1 rec.
           |__Farber lipogranulomatosis
           |__lysosomal acid lipase deficiency 21 rec.
           |   |__cholesterol ester storage disease 21 rec.
           |   |__Wolman disease 21 rec.
           |__mucolipidosis 17 rec.
           |   |__glycoproteinosis 4 rec.
           |   |__mucolipidosis II alpha/beta 1 rec.
           |   |__mucolipidosis III alpha/beta 1 rec.
           |   |__mucolipidosis III gamma 1 rec.
           |   |__mucolipidosis type IV 13 rec.
           |__neuronal ceroid lipofuscinosis 62 rec.
           |   |__neuronal ceroid lipofuscinosis 1 9 rec.
           |   |__neuronal ceroid lipofuscinosis 2
           |   |__neuronal ceroid lipofuscinosis 3 2 rec.
           |   |__neuronal ceroid lipofuscinosis 4 17 rec.
           |   |__neuronal ceroid lipofuscinosis 5
           |   |__neuronal ceroid lipofuscinosis 6A
           |   |__neuronal ceroid lipofuscinosis 6B
           |   |__neuronal ceroid lipofuscinosis 7 9 rec.
           |   |__neuronal ceroid lipofuscinosis 8 1 rec.
           |   |__neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 rec.
           |   |__neuronal ceroid lipofuscinosis 9
           |   |__neuronal ceroid lipofuscinosis 10 3 rec.
           |   |__neuronal ceroid lipofuscinosis 11
           |   |__neuronal ceroid lipofuscinosis 13 2 rec.
           |   |__neuronal ceroid lipofuscinosis 15 1 rec.
           |__Siddiqi syndrome 4 rec.
           |__sphingolipidosis 85 rec.
           |   |__combined saposin deficiency 7 rec.
           |   |__Fabry disease 5 rec.
           |   |__gangliosidosis(+) 5 rec.
           |   |__Gaucher's disease(+) 25 rec.
           |   |__Krabbe disease
           |   |__metachromatic leukodystrophy 6 rec.
           |   |__mucosulfatidosis 2 rec.
           |   |__Niemann-Pick disease(+) 32 rec.
           |   |__sea-blue histiocytosis
           |__steatotic liver disease 19 rec.
           |   |__metabolic dysfunction and alcohol associated liver disease
           |   |__metabolic dysfunction-associated steatotic liver disease(+) 15 rec.
           |__xanthomatosis 10 rec.
               |__cerebrotendinous xanthomatosis 10 rec.
               |__verruciform xanthoma of skin
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Is a lysosomal storage disease
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Synonyms
  • "inborn lipid storage disorder" EXACT
    "Lipoid storage diseas" EXACT
    "lipoidosis" EXACT
Secondary IDs
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ICD10CM:E75.6
ICD9CM:272.7
ICD9CM:272.8
MESH:D008064
SNOMEDCT_US_2023_03_01:11455007
SNOMEDCT_US_2023_03_01:154744007
UMLS_CUI:C0023794
UMLS_CUI:C0029591