Preferred Name | Sjogren-Larsson Syndrome | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sjogren-Larsson_Syndrome |
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DEFINITION |
A rare autosomal recessive inherited metabolic syndrome caused by mutations in the ALDH3A2 gene. It is characterized by deficiency of fatty aldehyde dehydrogenase. It is manifested with congenital ichthyosis, mental retardation, and leg paralysis. |
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label |
Sjogren-Larsson Syndrome |
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prefixIRI |
Thesaurus:Sjogren-Larsson_Syndrome |
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prefLabel |
Sjogren-Larsson Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
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