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Disease Ontology Browser
Sjogren-Larsson syndrome (DOID:14501)
Alliance: disease page
Synonyms: FALDH deficiency; fatty acid alcohol oxidoreductase deficiency; Sjogren Larsson syndrome; Sjogren-Larsson's syndrome; SLS
Alt IDs: OMIM:270200, MESH:D016111, NCI:C85070, ORDO:816, UMLS_CUI:C0037231
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory