| D008052 |
Lipid Metabolism, Inborn Errors |
Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. |
Lipid Metabolism, Inborn Error |
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| D006017 |
Glycolipids |
Any compound containing one or more monosaccharide residues bound by a glycosidic linkage to a hydrophobic moiety such as an acylglycerol (see GLYCERIDES), a sphingoid, a ceramide (CERAMIDES) (N-acylsphingoid) or a prenyl phosphate. (From IUPAC's webpage) |
Glycolipid |
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| D006596 |
Hexosaminidases |
Enzymes that catalyze the hydrolysis of N-acylhexosamine residues in N-acylhexosamides. Hexosaminidases also act on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. |
Galactosaminidases,Hexosaminidase,Galactosaminidase,Glucosaminidase,Glucosaminidases |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000795 |
Fabry Disease |
An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders. |
Anderson-Fabry Disease,Angiokeratoma Corporis Diffusum,Angiokeratoma Diffuse,Angiokeratoma, Diffuse,Ceramide Trihexosidase Deficiency,Fabry's Disease,GLA Deficiency,Hereditary Dystopic Lipidosis,alpha-Galactosidase A Deficiency,alpha-Galactosidase A Deficiency Disease,Anderson Fabry Disease,Deficiency, Ceramide Trihexosidase,Deficiency, GLA,Deficiency, alpha-Galactosidase A,Diffuse Angiokeratoma,Lipidosis, Hereditary Dystopic,alpha Galactosidase A Deficiency,alpha Galactosidase A Deficiency Disease |
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| D014184 |
Transplantation, Homologous |
Transplantation between individuals of the same species. Usually refers to genetically disparate individuals in contradistinction to isogeneic transplantation for genetically identical individuals. |
Transplantation, Allogeneic,Allogeneic Grafting,Allogeneic Transplantation,Allografting,Homografting,Homologous Transplantation,Grafting, Allogeneic |
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| D016030 |
Kidney Transplantation |
The transference of a kidney from one human or animal to another. |
Grafting, Kidney,Renal Transplantation,Transplantation, Kidney,Transplantation, Renal,Kidney Grafting,Kidney Transplantations,Renal Transplantations,Transplantations, Kidney,Transplantations, Renal |
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