| Metadata | |
|---|---|
| ID | DOID:14501 |
| Name | Sjogren-Larsson syndrome |
| 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. https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome, https://www.omim.org/entry/270200 |
| Xrefs |
SNOMEDCT_US_2023_03_01:111303009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
FALDH deficiency [EXACT] fatty acid alcohol oxidoreductase deficiency [EXACT] Sjogren Larsson syndrome [EXACT] Sjogren-Larsson's syndrome [EXACT] SLS [EXACT] |
| Parent Relationships |
is_a syndrome |