OBO ID: DOID:14501
Term Name: Sjogren-Larsson syndrome Search Ontology:
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)
OTHER Sjogren-Larsson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH3A2 Sjogren-Larsson syndrome 270200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None