Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Lipid Metabolism Disorders » Lipid Metabolism, Inborn Errors
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lipid Metabolism, Inborn Errors
Description
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. MeSH
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Subtype Terms (15)
Barth Syndrome
2 drugs (1 approved, 1 experimental)
Hyperlipidemia, Familial Combined
5 approved drugs
Hyperlipoproteinemia Type I
10 drugs (5 approved, 5 experimental)
Hyperlipoproteinemia Type II
41 drugs (20 approved, 21 experimental)
Hyperlipoproteinemia Type III
6 drugs (5 approved, 1 experimental)
Hyperlipoproteinemia Type IV
7 drugs (4 approved, 3 experimental)
Hyperlipoproteinemia Type V
4 drugs (1 approved, 3 experimental)
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypolipoproteinemias
2 approved drugs
Lipidoses
1 approved drug
Lipodystrophy, Congenital Generalized
3 drugs (1 approved, 2 experimental)
Lipodystrophy, Familial Partial
7 drugs (3 approved, 4 experimental)
Shwachman-Diamond Syndrome
16 drugs (12 approved, 4 experimental)
Smith-Lemli-Opitz Syndrome
6 drugs (3 approved, 3 experimental)
Xanthomatosis, Cerebrotendinous
2 approved drugs
Phase 3 Indicated Drugs (3)
Other Experimental Indicated Drugs (2)
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 3 Indications (4)
Organization Involved with Phase 2 Indications (1)
Organization Involved with Phase 1 Indications (3)
Organization Involved with Other Experimental Indications (10)
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UMLS Data
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