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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Sjogren-Larsson syndrome
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Accession:EFO:MONDO:0010031 term browser browse the term
Definition:A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.
Synonyms:exact_synonym: DOID:14501;   NCIT:C85070;   Orphanet:816;   SLS;   Senior-Løken Syndrome;   Sjogren-Larsson's syndrome;   fatty acid alcohol oxidoreductase deficiency;   http://identifiers.org/medgen/11443;   http://identifiers.org/mesh/D016111;   http://identifiers.org/snomedct/111303009;   http://linkedlifedata.com/resource/umls/id/C0037231;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/418359090;   https://omim.org/entry/270200
 synonym: http://identifiers.org/meddra/10048676
 related_synonym: FADH deficiency;   FALDH deficiency;   FAO deficiency;   Sjögren-Larsson syndrome;   fatty alcohol:NAD+ oxidoreductase deficiency;   fatty aldehyde dehydrogenase deficiency;   ichthyosis, spastic neurologic disorder, and oligophrenia
 alt_id: MONDO:0010031
 xref: DOID:14501;   GARD:7654;   MEDGEN:11443;   MESH:D016111;   MIM:270200;   MedDRA:10048676;   NANDO:1200620;   NANDO:2200994;   NCI:C85070;   NORD:1377;   ORDO:816;   SCTID:111303009;   UMLS:C0037231;   icd11.foundation:418359090
 see_also: https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome" xsd:anyURI {source="GARD:0007654


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