Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

familial Mediterranean fever
Synonyms

benign paroxysmal peritonitis

FMF

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. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

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

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD9CM:277.31

UMLS_CUI:C0031069

ICD10CM:M04.1

MESH:D010505

SNOMEDCT_US_2023_03_01:12579009

GARD:6421

MIM:134610

MIM:249100

NCI:C84707

ORDO:342

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.

has exact synonym

benign paroxysmal peritonitis

FMF

has material basis in

http://purl.obolibrary.org/obo/GENO_0000934

has symptom

http://purl.obolibrary.org/obo/SYMP_0000061

has_obo_namespace

disease_ontology

id

DOID:2987

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

familial Mediterranean fever

notation

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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Delete Mapping To Ontology Source
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 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2987 FNS-H SAME_URI
http://purl.bioontology.org/ontology/OMIM/249100 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/C373100 RCTV2 LOOM
http://nanbyodata.jp/ontology/NANDO_1200863 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018088 EFO 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.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 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2987 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2987 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/12579009 SNOMEDCT LOOM
rgo:01071 GAMUTS 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://nanbyodata.jp/ontology/NANDO_2200431 NANDO 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
http://www.gamuts.net/entity#familial_Mediterranean_fever GAMUTS REST