loading...| Preferred Name |
Sjogren-Larsson Syndrome [Disease/Finding] |
|
| Synonyms |
FALDH Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003365 |
|
| altLabel |
FALDH Deficiency Ichthyosis Oligophrenia Syndrome Sjögren-Larsson Syndrome Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia Fatty Alcohol:NAD+ Oxidoreductase Deficiency Fatty Aldehyde Dehydrogenase Deficiency Disease Sjogren-Larsson Syndrome Fatty Aldehyde Dehydrogenase Deficiency |
|
| cui |
C0037231 |
|
| MESH DEFINITION |
An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism. |
|
| MESH DUI |
D016111 |
|
| MeSH name |
Sjogren-Larsson Syndrome |
|
| MESH UI |
M0024610 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003365 |
|
| NUI |
N0000003365 |
|
| prefLabel |
Sjogren-Larsson Syndrome [Disease/Finding] |
|
| SNOMED CID |
111303009 |
|
| tui |
T047 |
|
| subClassOf |