SHMARQL

Sjogren-Larsson syndrome

<http://www.wikidata.org/entity/Q2291208>

autosomal recessive form of ichthyosis apparent at birth
rdfs:label
"Sjogren-Larsson syndrome"@en
skos:altLabel
"FADH deficiency"@en
"FAO deficiency"@en
"Faldh Deficiency"@en
"Fatty Alcohol:Nad+ Oxidoreductase Deficiency"@en
"Fatty Aldehyde Dehydrogenase Deficiency"@en
"Fatty acid alcohol oxidoreductase deficiency"@en
"Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia"@en
"SJOGREN-LARSSON SYNDROME"@en
"SJOGREN-LARSSON SYNDROME; SLS"@en
"SLS"@en
"Sjogren Larsson syndrome"@en
"Sjogren-Larsson syndrome (disorder)"@en
"Sjogren-Larsson's syndrome"@en
"Sjögren-Larsson syndrome"@en
schema:description
"autosomal recessive form of ichthyosis apparent at birth"@en
schema:dateModified "2026-10-24T00:37:25+00:00"^^xsd:dateTime
schema:version 2560167427
wikibase:identifiers 29
31
wikibase:sitelinks 14
wikibase:statements 74
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D016111>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010031>
p:direct-normalized/P6366 <https://makg.org/entity/2778154366>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00162>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.131.831.512.723>
<http://id.nlm.nih.gov/mesh/C16.320.565.398.641.723>
<http://id.nlm.nih.gov/mesh/C16.320.850.820>
<http://id.nlm.nih.gov/mesh/C16.614.492.723>
<http://id.nlm.nih.gov/mesh/C17.800.428.333.723>
<http://id.nlm.nih.gov/mesh/C17.800.804.512.723>
<http://id.nlm.nih.gov/mesh/C17.800.827.820>
<http://id.nlm.nih.gov/mesh/C18.452.584.563.641.723>
<http://id.nlm.nih.gov/mesh/C18.452.648.398.641.723>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:14501>
wdt:P11143 "Sjögren–Larsson syndrome"
wdt:P11430 "DI-01031"
wdt:P1193 0.0003^^xsd:decimal
wdt:P138 Torsten Sjögren
wdt:P14914 "D00816"
wdt:P1550 "816"
wdt:P1748 "C85070"
wdt:P1995 medical genetics
wdt:P2293 ALDH3A2
wdt:P279 autosomal recessive disease
neurometabolic disease
syndrome
syndromic dyslipidemia
autosomal ichthyosis syndrome with prominent neurological signs
disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
unclassified primitive or secondary maculopathy
syndromic ichthyosis associated with ocular features
metabolic disease with cataract
metabolic disease with pigmentary retinitis
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:14501>
<http://purl.obolibrary.org/obo/DOID_14501>
<http://www.orpha.net/ORDO/Orphanet_816>
wdt:P2892 "C0037231"
wdt:P31 type of disease
rare disease
wdt:P373 "Sjögren–Larsson syndrome"
wdt:P4229 "Q87.1"
wdt:P4233 "sjogren-larsson-syndrome"
wdt:P4317 "7654"
wdt:P486 "D016111"
wdt:P492 "270200"
wdt:P493 "757.1"
wdt:P494 "Q87.1"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010031"
wdt:P557 "30051"
wdt:P6366 "2778154366"
wdt:P646 "/m/0fmyrk"
wdt:P6532 erythema
speech disorder
pyramidal sign
Generalized hyperpigmentation
hyperkeratosis
myopia
scoliosis
hypotonia
urticaria
xeroderma
dysarthria
macular degeneration
spastic diplegia
microcephaly
abnormal kyphosis
retinal disease
joint stiffness
seizure
short stature
wdt:P665 "H00162"
wdt:P672 "C16.131.831.512.723"
"C16.320.565.398.641.723"
"C16.320.850.820"
"C16.614.492.723"
"C17.800.428.333.723"
"C17.800.804.512.723"
"C17.800.827.820"
"C18.452.584.563.641.723"
"C18.452.648.398.641.723"
wdt:P673 "1114823"
wdt:P699 "DOID:14501"
wdt:P7329 "5C52.03"
wdt:P7807 "418359090"
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