loading...| Preferred Name | Sjogren-Larsson syndrome | |
| Synonyms |
FADH deficiency FALDH deficiency Sjögren-Larsson syndrome FAO deficiency ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency fatty alcohol:NAD+ oxidoreductase deficiency SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency Sjogren-Larsson's syndrome Sjogren-Larsson syndrome |
|
| Definitions |
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010031 |
|
| altLabel |
FADH deficiency FALDH deficiency Sjögren-Larsson syndrome FAO deficiency ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency fatty alcohol:NAD+ oxidoreductase deficiency SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency Sjogren-Larsson's syndrome Sjogren-Larsson syndrome |
|
| definition |
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. |
|
| has_exact_synonym |
SLS Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency Sjogren-Larsson's syndrome Sjogren-Larsson syndrome |
|
| has_related_synonym |
FADH deficiency FALDH deficiency Sjögren-Larsson syndrome FAO deficiency ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency fatty alcohol:NAD+ oxidoreductase deficiency |
|
| label |
Sjogren-Larsson syndrome |
|
| prefixIRI |
MONDO:0010031 |
|
| prefLabel |
Sjogren-Larsson syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome |
|
| textual definition |
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018117 http://purl.obolibrary.org/obo/MONDO_0017270 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0015905 |