FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

familial Mediterranean fever
Synonyms
Definitions

An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
ID

http://purl.obolibrary.org/obo/DOID_2987
definition

An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

familial Mediterranean fever
prefixIRI

DOID:2987
prefLabel

familial Mediterranean fever
subClassOf

http://purl.obolibrary.org/obo/DOID_417

http://purl.obolibrary.org/obo/DOID_0050739
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http://purl.obolibrary.org/obo/DOID_2987 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018088 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200863 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_2987 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200431 NANDO LOOM
http://purl.bioontology.org/ontology/OMIM/249100 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/C373100 RCTV2 LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 KTAO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Familial_Mediterranean_Fever CSEO LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Familial_Mediterranean_fever RPO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.382.625 RH-MESH LOOM
http://www.gamuts.net/entity#familial_Mediterranean_fever GAMUTS LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18199 DERMLEX LOOM
urn:agi-pathway:uuid-87736807-c3f0-4428-abcb-300fa1d545f0 BPT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2987 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C84707 BERO LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00652 OCIMIDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_920 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84707 NCIT LOOM
http://purl.obolibrary.org/obo/DOID_2987 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2987 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2987 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2987 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2987 NIFSTD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/12579009 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9501 OCHV LOOM
http://purl.obolibrary.org/obo/OMIT_0011497 OMIT LOOM
http://purl.obolibrary.org/obo/DERMO_0000694 DERMO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036748 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D010505 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.31 ICD9CM LOOM
http://purl.bioontology.org/ontology/RCD/C3731 RCD LOOM
http://www.orpha.net/ORDO/Orphanet_342 ORDO LOOM
http://purl.jp/bio/4/id/200906016016669571 IOBC LOOM
urn:agi-folder:familial_mediterranean_fever BPT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0031069 OCHV LOOM
http://purl.bioontology.org/ontology/MESH/D010505 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10016207 MEDDRA LOOM