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Preferred Name

Galactosémies
Synonyms

Déficit en galactose-1-phosphate uridyltransférase

Déficit en UDP-glucose-4-épimérase

Déficit en galactose-uridyl-transferase

Déficit en galactose 1-phosphatase uridyl transférase (GALT)

Déficit en UDP-galactose-4-épimérase

Galactosémie classique

Déficit héréditaire en galactokinase

Déficit en galactokinase

Déficit en UTP-hexose-1-phosphate uridylyltransférase
ID

http://purl.bioontology.org/ontology/MSHFRE/D005693
altLabel

Déficit en galactose-1-phosphate uridyltransférase

Déficit en UDP-glucose-4-épimérase

Déficit en galactose-uridyl-transferase

Déficit en galactose 1-phosphatase uridyl transférase (GALT)

Déficit en UDP-galactose-4-épimérase

Galactosémie classique

Déficit héréditaire en galactokinase

Déficit en galactokinase

Déficit en UTP-hexose-1-phosphate uridylyltransférase
cui

C0268151

C0016952

C0751161

C0268155
Inverse of RO

http://purl.bioontology.org/ontology/MSHFRE/D005690

http://purl.bioontology.org/ontology/MSHFRE/D005694

http://purl.bioontology.org/ontology/MSHFRE/D006599

http://purl.bioontology.org/ontology/MSHFRE/D005686

http://purl.bioontology.org/ontology/MSHFRE/D014534
notation

D005693
prefLabel

Galactosémies
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MSHFRE/D020739

http://purl.bioontology.org/ontology/MSHFRE/D002239
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http://purl.bioontology.org/ontology/MESH/D005693 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10017605 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-50530 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/E74.29 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/230400 OMIM CUI
http://purl.bioontology.org/ontology/LNC/LA21165-8 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/124354006 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012910 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/398664009 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP56781-5 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/398664009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-3608 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D6-50510 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124354006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/606999 OMIM CUI
http://purl.bioontology.org/ontology/RCD/C3110 RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU021611 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10017610 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10017604 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP56739-3 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190745006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10017605 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E74.21 ICD10CM CUI
http://purl.bioontology.org/ontology/LNC/MTHU021572 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10017604 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012915 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190749000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10017610 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D005693 MESH CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001303 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10017605 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/271.1 ICD9CM CUI
http://purl.bioontology.org/ontology/SNMI/D6-50500 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/190745006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10017604 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/190749000 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1849-3608 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10017610 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/C311. RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/8849004 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D005693 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8849004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/230350 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/606953 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40TR RCD CUI
http://purl.bioontology.org/ontology/LNC/LP56783-1 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LA12541-1 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU021613 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124302001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/604313 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-50520 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D005693 MESH CUI
http://purl.bioontology.org/ontology/RCD/C3111 RCD CUI
http://purl.bioontology.org/ontology/LNC/LA12542-9 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LP56782-3 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/124302001 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/230200 OMIM CUI
http://purl.bioontology.org/ontology/LNC/MTHU021612 LOINC CUI