loading...| Preferred Name | Sjogren-Larsson syndrome | |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14501 |
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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. |
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Sjogren-Larsson syndrome |
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DOID:14501 |
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| prefLabel |
Sjogren-Larsson syndrome |
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