Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

exostosin glycosyltransferase 1
Synonyms

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase

ttv

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
ID

http://www.orpha.net/ORDO/Orphanet_121645
alternative_term

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase

ttv

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
hasDbXref

Reactome:Q16394

SwissProt:Q16394

Ensembl:ENSG00000182197

OMIM:608177

Genatlas:EXT1

HGNC:3512
label

exostosin glycosyltransferase 1
prefixIRI

ORDO:Orphanet_121645
prefLabel

exostosin glycosyltransferase 1
symbol

EXT1
subClassOf

http://www.orpha.net/ORDO/Orphanet_410298
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