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ID

http://purl.lirmm.fr/ontology/MSHFRE/D019082

Preferred Name

Syndrome de Smith-Lemli-Optiz

Synonyms

Déficit en 7-déhydrocholestérol réductase

Syndrome de Smith-Lemli-Opitz de type I

Syndrome de Smith-Lemli-Opitz de type II

Syndrome de Smith-Lemli-Opitz de type 2

Syndrome de Smith-Lemli-Opitz de type 1

Syndrome de Rutledge Friedman Harrod

Syndrome RSH

Syndrome RSH-SLO

Type

http://www.w3.org/2002/07/owl#Class

SIB

http://purl.lirmm.fr/ontology/MSHFRE/D000073842

http://purl.lirmm.fr/ontology/MSHFRE/D020331

http://purl.lirmm.fr/ontology/MSHFRE/D056846

http://purl.lirmm.fr/ontology/MSHFRE/D006952

http://purl.lirmm.fr/ontology/MSHFRE/D016738

http://purl.lirmm.fr/ontology/MSHFRE/D007690

http://purl.lirmm.fr/ontology/MSHFRE/D001506

http://purl.lirmm.fr/ontology/MSHFRE/D003410

http://purl.lirmm.fr/ontology/MSHFRE/D016142

http://purl.lirmm.fr/ontology/MSHFRE/D006954

http://purl.lirmm.fr/ontology/MSHFRE/D006953

http://purl.lirmm.fr/ontology/MSHFRE/D009261

http://purl.lirmm.fr/ontology/MSHFRE/D006950

http://purl.lirmm.fr/ontology/MSHFRE/D056830

http://purl.lirmm.fr/ontology/MSHFRE/D054463

http://purl.lirmm.fr/ontology/MSHFRE/D008064

http://purl.lirmm.fr/ontology/MSHFRE/D009958

http://purl.lirmm.fr/ontology/MSHFRE/D009800

http://purl.lirmm.fr/ontology/MSHFRE/D000312

http://purl.lirmm.fr/ontology/MSHFRE/D016878

http://purl.lirmm.fr/ontology/MSHFRE/D001816

http://purl.lirmm.fr/ontology/MSHFRE/D054877

http://purl.lirmm.fr/ontology/MSHFRE/D008072

http://purl.lirmm.fr/ontology/MSHFRE/D015211

http://purl.lirmm.fr/ontology/MSHFRE/D006938

http://purl.lirmm.fr/ontology/MSHFRE/D052497

http://purl.lirmm.fr/ontology/MSHFRE/D004314

http://purl.lirmm.fr/ontology/MSHFRE/D007849

http://purl.lirmm.fr/ontology/MSHFRE/D017204

http://purl.lirmm.fr/ontology/MSHFRE/D054882

http://purl.lirmm.fr/ontology/MSHFRE/D012415

http://purl.lirmm.fr/ontology/MSHFRE/D058747

http://purl.lirmm.fr/ontology/MSHFRE/D005736

http://purl.lirmm.fr/ontology/MSHFRE/D012410

http://purl.lirmm.fr/ontology/MSHFRE/D054975

http://purl.lirmm.fr/ontology/MSHFRE/D058502

http://purl.lirmm.fr/ontology/MSHFRE/D056685

http://purl.lirmm.fr/ontology/MSHFRE/D056733

http://purl.lirmm.fr/ontology/MSHFRE/D054062

http://purl.lirmm.fr/ontology/MSHFRE/D016114

http://purl.lirmm.fr/ontology/MSHFRE/D056732

http://purl.lirmm.fr/ontology/MSHFRE/D056889

http://purl.lirmm.fr/ontology/MSHFRE/D056734

http://purl.lirmm.fr/ontology/MSHFRE/D003635

http://purl.lirmm.fr/ontology/MSHFRE/D019280

http://purl.lirmm.fr/ontology/MSHFRE/D001478

http://purl.lirmm.fr/ontology/MSHFRE/D016715

http://purl.lirmm.fr/ontology/MSHFRE/D055947

http://purl.lirmm.fr/ontology/MSHFRE/D056730

http://purl.lirmm.fr/ontology/MSHFRE/D043204

http://purl.lirmm.fr/ontology/MSHFRE/D059446

http://purl.lirmm.fr/ontology/MSHFRE/D003057

http://purl.lirmm.fr/ontology/MSHFRE/D007184

http://purl.lirmm.fr/ontology/MSHFRE/D000073839

http://purl.lirmm.fr/ontology/MSHFRE/D056731

http://purl.lirmm.fr/ontology/MSHFRE/D011218

http://purl.lirmm.fr/ontology/MSHFRE/D056770

http://purl.lirmm.fr/ontology/MSHFRE/D058165

http://purl.lirmm.fr/ontology/MSHFRE/D007009

http://purl.lirmm.fr/ontology/MSHFRE/D008382

http://purl.lirmm.fr/ontology/MSHFRE/D006949

http://purl.lirmm.fr/ontology/MSHFRE/D014849

http://purl.lirmm.fr/ontology/MSHFRE/D058496

http://purl.lirmm.fr/ontology/MSHFRE/D044542

http://purl.lirmm.fr/ontology/MSHFRE/D019294

http://purl.lirmm.fr/ontology/MSHFRE/D054000

http://purl.lirmm.fr/ontology/MSHFRE/D012779

http://purl.lirmm.fr/ontology/MSHFRE/D058495

http://purl.lirmm.fr/ontology/MSHFRE/D011535

http://purl.lirmm.fr/ontology/MSHFRE/D004476

http://purl.lirmm.fr/ontology/MSHFRE/D058497

http://purl.lirmm.fr/ontology/MSHFRE/D000072661

TERMUI

fre0035935

fre0111042

fre0035933

fre0031270

fre0035936

fre0031271

fre0035934

fre0111041

fre0035937

notation

D019082

tui

T047

altLabel

Déficit en 7-déhydrocholestérol réductase

Syndrome de Smith-Lemli-Opitz de type I

Syndrome de Smith-Lemli-Opitz de type II

Syndrome de Smith-Lemli-Opitz de type 2

Syndrome de Smith-Lemli-Opitz de type 1

Syndrome de Rutledge Friedman Harrod

Syndrome RSH

Syndrome RSH-SLO

cui

C0282644

C0175694

C2713347

C0282643

prefLabel

Syndrome de Smith-Lemli-Optiz

hasSTY

http://purl.lirmm.fr/ontology/STY/T047

subClassOf

http://purl.lirmm.fr/ontology/MSHFRE/D050171

http://purl.lirmm.fr/ontology/MSHFRE/D008052

http://purl.lirmm.fr/ontology/MSHFRE/D000015

http://purl.lirmm.fr/ontology/MSHFRE/D043202

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