Preferred Name |
Sjogren-Larsson syndrome |
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Synonyms |
Sjogren-Larsson's syndrome |
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Definitions |
OMIM mapping confirmed by DO. [LS]. 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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comment |
OMIM mapping confirmed by DO. [LS]. |
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database_cross_reference |
OMIM:270200 MESH:D016111 UMLS_CUI:C0037231 SNOMEDCT_US_2023_03_01:111303009 GARD:7654 NCI:C85070 ORDO:816 |
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has exact synonym |
Sjogren-Larsson's syndrome FALDH deficiency SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency |
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has material basis in | ||
has_obo_namespace |
disease_ontology |
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id |
DOID:14501 |
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in_subset | ||
label |
Sjogren-Larsson syndrome |
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notation |
DOID:14501 |
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prefLabel |
Sjogren-Larsson syndrome |
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textual 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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subClassOf |