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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
Cardiovascular Diseases > Vascular Diseases > Cerebrovascular Disorders > Cerebral Small Vessel Diseases > Fabry Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebrovascular Disorders > Cerebral Small Vessel Diseases > Fabry Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Fabry Disease

Terme préférentiel

Fabry Disease  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • alpha-Galactosidase A Deficiency
  • alpha-Galactosidase A Deficiency Disease
  • Anderson-Fabry Disease
  • Angiokeratoma Corporis Diffusum
  • Angiokeratoma Diffuse
  • Angiokeratoma, Diffuse
  • Ceramide Trihexosidase Deficiency
  • Fabry's Disease
  • GLA Deficiency
  • Hereditary Dystopic Lipidosis

Qualificatif(s) autorisé(s)

Traductions

  • Maladie de Fabry

    français

  • Angiokératome diffus de Fabry
  • Angiokératose diffuse de Fabry
  • Angiokératose diffuse universelle
  • Déficit en alpha-galactosidase A
  • Sphingolipidose héréditaire de Fabry
  • Thésaurismose lipoïdique héréditaire

URI

http://data.loterre.fr/ark:/67375/JVR-L03WDG98-J

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 01/07/2021