FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Sjogren-Larsson syndrome ID (Ontology) DOID:14501 (Human Disease)
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.
Also Known As "FALDH deficiency" ; "fatty acid alcohol oxidoreductase deficiency" ; "Sjogren Larsson syndrome" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Sjogren-Larsson syndrome       1
 for disease ribbon | Sjogren-Larsson syndrome       1
 model of | Sjogren-Larsson syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Sjogren-Larsson syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "FALDH deficiency" EXACT
    "fatty acid alcohol oxidoreductase deficiency" EXACT
    "Sjogren Larsson syndrome" EXACT
    "Sjogren-Larsson's syndrome" EXACT
    "SLS" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:7654
MESH:D016111
MIM:270200
NCI:C85070
ORDO:816
SNOMEDCT_US_2023_03_01:111303009
UMLS_CUI:C0037231