Medical Subject Headings, version francaise

Last uploaded: April 26, 2020
ID

http://purl.lirmm.fr/ontology/MSHFRE/D007926
Preferred Name

Syndrome de Lesch-Nyhan
Synonyms

Déficit en hypoxanthine-guanine-phosphoribosyl-transférase

Déficit complet en HGPRT

Déficit en hypoxanthine guanine phosphoribosyltransférase

Maladie de Lesch-Nyhan
Type

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

RO

http://purl.lirmm.fr/ontology/MSHFRE/D007041
SIB

http://purl.lirmm.fr/ontology/MSHFRE/D020140

http://purl.lirmm.fr/ontology/MSHFRE/D054221

http://purl.lirmm.fr/ontology/MSHFRE/D017243

http://purl.lirmm.fr/ontology/MSHFRE/D017241

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

http://purl.lirmm.fr/ontology/MSHFRE/D007706

http://purl.lirmm.fr/ontology/MSHFRE/D052120

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

http://purl.lirmm.fr/ontology/MSHFRE/D052919

http://purl.lirmm.fr/ontology/MSHFRE/D020167

http://purl.lirmm.fr/ontology/MSHFRE/D010661

http://purl.lirmm.fr/ontology/MSHFRE/D020176

http://purl.lirmm.fr/ontology/MSHFRE/D028243

http://purl.lirmm.fr/ontology/MSHFRE/D020279

http://purl.lirmm.fr/ontology/MSHFRE/D054078

http://purl.lirmm.fr/ontology/MSHFRE/D054067

http://purl.lirmm.fr/ontology/MSHFRE/D038921

http://purl.lirmm.fr/ontology/MSHFRE/D005600

http://purl.lirmm.fr/ontology/MSHFRE/D015325

http://purl.lirmm.fr/ontology/MSHFRE/D015518

http://purl.lirmm.fr/ontology/MSHFRE/D005693

http://purl.lirmm.fr/ontology/MSHFRE/D006073

http://purl.lirmm.fr/ontology/MSHFRE/D012035

http://purl.lirmm.fr/ontology/MSHFRE/D006527

http://purl.lirmm.fr/ontology/MSHFRE/D016532

http://purl.lirmm.fr/ontology/MSHFRE/D015324

http://purl.lirmm.fr/ontology/MSHFRE/D020158

http://purl.lirmm.fr/ontology/MSHFRE/D008375

http://purl.lirmm.fr/ontology/MSHFRE/D000326

http://purl.lirmm.fr/ontology/MSHFRE/D006250

http://purl.lirmm.fr/ontology/MSHFRE/D006712

http://purl.lirmm.fr/ontology/MSHFRE/D007888

http://purl.lirmm.fr/ontology/MSHFRE/D056806
TERMUI

fre0007662

fre0045048

fre0057562

fre0045049

fre0045047
notation

D007926
tui

T047
altLabel

Déficit en hypoxanthine-guanine-phosphoribosyl-transférase

Déficit complet en HGPRT

Déficit en hypoxanthine guanine phosphoribosyltransférase

Maladie de Lesch-Nyhan
cui

C0023374
prefLabel

Syndrome de Lesch-Nyhan
hasSTY

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

http://purl.lirmm.fr/ontology/MSHFRE/D011686

http://purl.lirmm.fr/ontology/MSHFRE/D020739

http://purl.lirmm.fr/ontology/MSHFRE/D038901
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