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DOID:14501 - Sjogren-Larsson syndrome
Disease Ontology 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.
Synonyms: FALDH deficiency, SLS, Sjogren Larsson syndrome, Sjogren-Larsson syndrome (disorder), Sjogren-Larsson's syndrome, fatty acid alcohol oxidoreductase deficiency,
Xenbase Genes
:
aldh3a2
| MONDO:0010031 - Sjogren-Larsson syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)