Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Mevalonate kinase deficiency
Synonyms

Deficiencia de mevalonato quinasa
ID

http://www.limics.org/hrdo/rdfns#pat_id_21338
altLabel

Deficiencia de mevalonato quinasa
id_Orpha

309025
patType

group of phenomes
prefixIRI

hrdo:pat_id_21338
prefLabel

Mevalonate kinase deficiency

Mevalonatkinase-Mangel

Mevalonate kinase deficiency

Deficit di mevalonato chinasi

Déficit de mevalonato quinasa

Déficit en mévalonate kinase
subClassOf

http://www.limics.org/hrdo/rdfns#pat_id_11221
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http://purl.obolibrary.org/obo/MONDO_0017708 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017708 EFO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.663.480 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_309025 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017708 DOVES LOOM
http://purl.obolibrary.org/obo/OMIT_0025667 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054078 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.382.750 RH-MESH LOOM
urn:agi-pathway:uuid-e74716a0-88da-4e29-a893-b7334f667895 BPT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.680.430 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.663.480 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.683.460.319 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84890 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.680.430 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D054078 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.680.430 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.680.430 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036701 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.542.319 RH-MESH LOOM
http://purl.jp/bio/4/id/200906025399242290 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072221 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mevalonate_Kinase_Deficiency CSEO LOOM
http://purl.bioontology.org/ontology/RCD/X40TA RCD LOOM
http://purl.obolibrary.org/obo/NCIT_C84890 BERO LOOM