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Preferred Name

Maladies génétiques congénitales
Synonyms

Génopathies monogéniques

Maladie héréditaire

Génopathies

Maladies héréditaires

Maladies monogéniques

Anomalies monogéniques
ID

http://purl.bioontology.org/ontology/MSHFRE/D030342
altLabel

Génopathies monogéniques

Maladie héréditaire

Génopathies

Maladies héréditaires

Maladies monogéniques

Anomalies monogéniques
cui

C0950123

C0037176

C0019247
Inverse of RO

http://purl.bioontology.org/ontology/MSHFRE/D005826
notation

D030342
prefLabel

D030342
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MSHFRE/D009358
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http://purl.bioontology.org/ontology/NDFRT/N0000011105 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/264572004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/LNC/LP62869-0 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D030342 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/264572004 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D030342 MESH CUI
http://purl.bioontology.org/ontology/RCD/XC0fH RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10061205 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10019873 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/782964007 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/32895009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/782964007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000256156 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10019873 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/Xa4hE RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10019873 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/32895009 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MDRFRE/10061205 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10061205 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D030342 MESH CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/LNC/MTHU025721 LOINC CUI
http://purl.bioontology.org/ontology/SNMI/DF-00180 SNMI CUI