loading...| Preferred Name | Sjogren-Larsson syndrome | |
| Synonyms |
Sjogren-Larsson's syndrome FALDH deficiency SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency |
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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. OMIM mapping confirmed by DO. [LS]. |
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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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| alternative label |
Sjogren-Larsson's syndrome FALDH deficiency SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency |
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| database_cross_reference |
MESH:D016111 UMLS_CUI:C0037231 SNOMEDCT_US_2023_03_01:111303009 GARD:7654 MIM:270200 NCI:C85070 ORDO:816 |
|
| 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. OMIM mapping confirmed by DO. [LS]. |
|
| 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 |
|
| id |
DOID:14501 |
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| in_subset | ||
| label |
Sjogren-Larsson syndrome |
|
| notation |
DOID:14501 |
|
| note |
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. OMIM mapping confirmed by DO. [LS]. |
|
| preferred label |
Sjogren-Larsson syndrome |
|
| prefLabel |
Sjogren-Larsson syndrome |
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| subClassOf |