PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Mevalonate Kinase Deficiency

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00036701

Database_Cross_Reference

SNOMEDCT_US:124327008

MTH:NOCODE

ICD10CM:M04.1

DO:DOID:0050452

NCI:C84890

RCD:X40TA

MDR:10072221

NCI_NICHD:C84890

NDFRT:N0000181132

MSH:D054078

label

Mevalonate Kinase Deficiency

MCID

MC00120571

PMOID

PMO:00036701

prefixIRI

pmo:PMO_00036701

prefLabel

Mevalonate Kinase Deficiency

Synonym

Kinase Deficiencies, Mevalonate

Deficiency of mevalonate kinase

Mevalonate kinase deficiency

mevalonic aciduria

HIDS

Mevalonate Kinase Deficiency [Disease/Finding]

Mevalonic Aciduria

Mevalonate Kinase Deficiencies

Deficiency of mevalonate kinase (disorder)

Hyperimmunoglobulin D with Periodic Fever Syndrome

MKD

Kinase Deficiency, Mevalonate

Tree Number

T9.5.2.10.5.3

T9.8.4.7.3

T9.11.1.12.11.5

T9.14.1.1.8.3

T9.8.4.14.11.5

T9.8.4.1.8.3

T9.8.4.14.8.17

T9.11.1.12.8.17

T9.23.7.2.3

T9.21.15.5.17.2.17

T9.11.1.6.2.17

T3.25.56.3

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00038495

http://www.phoc.org.cn/pmo/class/PMO_00036745

http://www.phoc.org.cn/pmo/class/PMO_00036699

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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://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.147.542.319 RH-MESH LOOM
http://purl.jp/bio/4/id/200906025399242290 IOBC LOOM
http://www.limics.org/hrdo/rdfns#pat_id_21338 HRDO 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