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DO Term : Sjogren-Larsson syndrome [DOID:14501] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:111303009,
  • NCI:C85070,
  • ORDO:816,
  • SLS,
  • MESH:D016111,
  • Sjogren-Larsson's syndrome,
  • GARD:7654,
  • FALDH deficiency,
  • OMIM:270200,
  • Sjogren Larsson syndrome,
  • UMLS_CUI:C0037231,
  • fatty acid alcohol oxidoreductase deficiency,
  • 270200
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