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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sjogren-Larsson Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sjogren-Larsson Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sjogren-Larsson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Sjogren-Larsson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Sjogren-Larsson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Keratosis > Ichthyosis > Sjogren-Larsson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Ichthyosis > Sjogren-Larsson Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ichthyosis > Sjogren-Larsson Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ichthyosis > Sjogren-Larsson Syndrome

Terme préférentiel

Sjogren-Larsson Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.

Concept générique

Synonyme(s)

  • Congenital Icthyosis Mental Retardation Spasticity Syndrome
  • FALDH Deficiency
  • Fatty Alcohol:NAD+ Oxidoreductase Deficiency
  • Fatty Aldehyde Dehydrogenase Deficiency
  • Fatty Aldehyde Dehydrogenase Deficiency Disease
  • Ichthyosis Oligophrenia Syndrome
  • Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
  • Sjögren-Larsson Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-N7T2BDLS-K

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RDF/XML TURTLE JSON-LD Date de création 06/06/1990, dernière modification le 01/07/2021