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Preferred Name

Tyrosinémies
Synonyms

Tyrosinémie de type 2

Déficit en 4-hydroxyphénylpyruvate dioxygénase

Tyrosinémies héréditaires

Déficit en tyrosine transaminase

Tyrosinémie de type II

Tyrosinémie oculo-cutanée

Déficit en fumarylacétoacétase

Tyrosinémie de type 1

Tyrosinémie de type III

Kératodermie palmoplantaire avec dystrophie cornéenne

Tyrosinémie de type I

Tyrosinémie de type 3

Tyrosinémie oculocutanée

Déficit en fumaryl acéto-acétase
ID

http://purl.bioontology.org/ontology/MSHFRE/D020176
altLabel

Tyrosinémie de type 2

Déficit en 4-hydroxyphénylpyruvate dioxygénase

Tyrosinémies héréditaires

Déficit en tyrosine transaminase

Tyrosinémie de type II

Tyrosinémie oculo-cutanée

Déficit en fumarylacétoacétase

Tyrosinémie de type 1

Tyrosinémie de type III

Kératodermie palmoplantaire avec dystrophie cornéenne

Tyrosinémie de type I

Tyrosinémie de type 3

Tyrosinémie oculocutanée

Déficit en fumaryl acéto-acétase
cui

C0268486

C0268623

C0268487

C0268490
Inverse of RO

http://purl.bioontology.org/ontology/MSHFRE/D014444
notation

D020176
prefLabel

Tyrosinémies
tui

T047
subClassOf

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

http://purl.bioontology.org/ontology/MSHFRE/D000592
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/271847005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/LNC/LA21172-4 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124287008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/27373000 SCTSPA CUI
http://purl.bioontology.org/ontology/CSP/1849-1291 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10063446 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10063443 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10063446 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/271847005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10063446 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10063443 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2130 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10063443 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/415764005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/609695 OMIM CUI
http://purl.bioontology.org/ontology/RCD/X40Rn RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/413356003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/413356003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4400 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10069461 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA12530-4 LOINC CUI
http://purl.bioontology.org/ontology/MDRFRE/10069461 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10069464 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/415764005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10069464 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069464 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10069461 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/276710 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10069463 MEDDRA CUI
http://purl.bioontology.org/ontology/LNC/LA12529-6 LOINC CUI
http://purl.bioontology.org/ontology/OMIM/276600 OMIM CUI
http://purl.bioontology.org/ontology/LNC/LA21171-6 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10069460 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10069460 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/613018 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/4887000 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069463 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069460 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2140 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10069463 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/4887000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40Rm RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/124287008 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10069462 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069462 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/613871 OMIM CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2150 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LA12528-8 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10069459 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10069459 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10069459 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/124536006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10069462 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D020176 MESH CUI
http://purl.bioontology.org/ontology/OMIM/276700 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/410056006 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA21170-8 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124536006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40Rl RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/410056006 SNOMEDCT CUI