Search Ontology:
Human Disease
Sjogren-Larsson syndrome
- Term ID
- DOID:14501
- Synonyms
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- FALDH deficiency
- fatty acid alcohol oxidoreductase deficiency
- Sjogren Larsson syndrome
- Sjogren-Larsson's syndrome
- SLS
- 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. (2)
- References
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- GARD:7654
- MESH:D016111
- MIM:270200
- NCI:C85070
- ORDO:816
- SNOMEDCT_US_2023_03_01:111303009
- UMLS_CUI:C0037231
- Ontology
- Human Disease ( DOID:14501 )
- is a type of
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Genes Involved
Zebrafish Models