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Sjogren-Larsson Syndrome
Definition: 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.

Synonym(s): Fatty Aldehyde Dehydrogenase Deficiency Disease / Sjogren Larsson Syndrome /
MeSH 2010 © U.S. National Library of Medicine®.
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  Web resources for "Sjogren-Larsson Syndrome"
  English (5)    German (1)  Spanish (1)      

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the robot description of the site Whonamedit - Sjögren-Larsson syndrome (Karl Gustaf Torsten Sjögren)www.whonamedit.com 2
view the HON description of the site HONcode - Orphanet: Sjögren Larsson syndromewww.orpha.net 2
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
 
 

Broader term(s): - Ichthyosis - Skin Abnormalities - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Lipidoses - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Skin Diseases, Genetic

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  Medical image(s) for "Sjogren-Larsson Syndrome"
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Broader term(s): - Ichthyosis
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  Medical News for "Sjogren-Larsson Syndrome"
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Broader term(s): - Abnormalities

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  Scientific articles from MEDLINE for "Sjogren-Larsson Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Sjogren-Larsson Syndrome"
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Broader term(s): - Ichthyosis - Skin Abnormalities - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Lipidoses - Metabolism, Inborn Errors

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lipid Metabolism, Inborn Errors
                          Lipidoses 
                  Lipid Metabolism Disorders
                      Lipidoses 
      Diseases
          Skin and Connective Tissue Diseases
              Skin Diseases
                  Skin Diseases, Genetic 
                  Skin Abnormalities
                      Ichthyosis 
                  Keratosis
                      Ichthyosis 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Infant, Newborn, Diseases
                  Ichthyosis 
              Genetic Diseases, Inborn
                  Skin Diseases, Genetic 
                  Metabolism, Inborn Errors
                      Lipid Metabolism, Inborn Errors
                          Lipidoses 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Abnormalities
                  Skin Abnormalities
                      Ichthyosis 

MeSH 2010 © U.S. National Library of Medicine®.

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