Search Ontology:
Human Disease

Sjogren-Larsson syndrome

Term ID
DOID:14501
Synonyms
  • FALDH deficiency
  • fatty acid alcohol oxidoreductase deficiency
  • Sjogren Larsson syndrome
  • Sjogren-Larsson's syndrome
  • SLS
Definition
A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (2)
References
Ontology
Human Disease   ( DOID:14501 )
Relationships
is a type of
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Genes Involved
Zebrafish Models