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Human Disease Ontology
Last uploaded:
February 5, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_14501
http://purl.obolibrary.org/obo/DOID_14501
|
|---|---|
| Preferred Name | Sjogren-Larsson syndrome |
| 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].
|
| Synonyms |
Sjogren-Larsson's syndrome
FALDH deficiency
SLS
Sjogren Larsson syndrome
fatty acid alcohol oxidoreductase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Sjogren-Larsson syndrome
|
| comment |
OMIM mapping confirmed by DO. [LS].
|
| prefLabel |
Sjogren-Larsson syndrome
|
| database_cross_reference |
MESH:D016111
UMLS_CUI:C0037231
SNOMEDCT_US_2023_03_01:111303009
GARD:7654
MIM:270200
NCI:C85070
ORDO:816
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|
| notation |
DOID:14501
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| in_subset | |
| id |
DOID:14501
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| has material basis in | |
| has_obo_namespace |
disease_ontology
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| subClassOf | |
| type | |
| has exact synonym |
Sjogren-Larsson's syndrome
FALDH deficiency
SLS
Sjogren Larsson syndrome
fatty acid alcohol oxidoreductase deficiency
|
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