About: Smith-Lemli-Opitz Syndrome

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About: Smith-Lemli-Opitz Syndrome Goto Sponge Distinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/ndfrt/DiseaseOrFinding, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	http://linked.opendata.cz/ontology/ndfrt/DiseaseOrFinding
sameAs	Smith-Lemli-Opitz Syndrome
Title	Smith-Lemli-Opitz Syndrome (en)
skos:broader	Abnormalities, Multiple Lipid Metabolism, Inborn Errors Steroid Metabolism, Inborn Errors Dyslipidemias
skos:prefLabel	Smith-Lemli-Opitz Syndrome (en)
adms:identifier	http://linked.opendata.cz/resource/ndfrt/disease/N0000003894/identifier/ndfrt/ http://linked.opendata.cz/resource/ndfrt/disease/N0000003894/identifier/ndfrt/N0000003894
http://linked.open...gy/ndfrt/UMLS_CUI	C0175694
skos:altLabel	Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung (en) RSH-SLO Syndrome (en) Hyperotosis Corticalis Generalisata Familiaris (en) RSH Syndrome (en) SLO Syndrome (en)
http://linked.open.../ndfrt/SNOMED_CID	43929004
http://linked.open...gy/ndfrt/MeSH_DUI	D019082

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