OBO ID: DOID:14501 |
Term Name: | Sjogren-Larsson syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:14501 ) |
OTHER Sjogren-Larsson syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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