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Sjogren-Larsson syndrome
Summary
- Synonym
-
- FALDH deficiency
- SLS
- Sjogren Larsson syndrome
- Sjogren-Larsson's syndrome
- fatty acid alcohol oxidoreductase deficiency
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:14501
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001387 | Joint stiffness |
| HP:0000962 | Hyperkeratosis |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000608 | Macular degeneration |
| HP:0002808 | Kyphosis |
| HP:0200020 | Corneal erosion |
| HP:0001252 | Hypotonia |
| HP:0000488 | Retinopathy |
| HP:0001260 | Dysarthria |
| HP:0007256 | Abnormal pyramidal sign |
