About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory