loading...| Preferred Name | Sjogren-Larsson syndrome | |
| Synonyms |
fatty alcohol:NAD+ oxidoreductase deficiency ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency Sjögren-Larsson syndrome FAO deficiency FALDH deficiency FADH deficiency Sjogren-Larsson syndrome Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency Sjogren-Larsson's syndrome Senior-Løken Syndrome SLS |
|
| 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 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C85070 MedDRA:10048676 OMIM:270200 NANDO:2200994 icd11.foundation:418359090 UMLS:C0037231 MESH:D016111 Orphanet:816 MEDGEN:11443 SCTID:111303009 NANDO:1200620 DOID:14501 GARD:7654 NORD:1377 |
|
| definition |
A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. |
|
| exactMatch |
http://identifiers.org/mesh/D016111 http://linkedlifedata.com/resource/umls/id/C0037231 http://identifiers.org/medgen/11443 http://purl.obolibrary.org/obo/DOID_14501 http://identifiers.org/snomedct/111303009 |
|
| has_exact_synonym |
Sjogren-Larsson syndrome Sjogren Larsson syndrome fatty acid alcohol oxidoreductase deficiency Sjogren-Larsson's syndrome Senior-Løken Syndrome SLS |
|
| has_related_synonym |
fatty alcohol:NAD+ oxidoreductase deficiency ichthyosis, spastic neurologic disorder, and oligophrenia fatty aldehyde dehydrogenase deficiency Sjögren-Larsson syndrome FAO deficiency FALDH deficiency FADH deficiency |
|
| IAO_0000233 | ||
| id |
MONDO:0010031 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Sjogren-Larsson syndrome |
|
| notation |
MONDO:0010031 |
|
| preferred label |
Sjogren-Larsson syndrome |
|
| prefLabel |
Sjogren-Larsson syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0010285 http://purl.obolibrary.org/obo/MONDO_0018117 http://www.ebi.ac.uk/efo/EFO_1000017 http://purl.obolibrary.org/obo/MONDO_0015905 |