Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MEFV INNATE IMMUNITY REGULATOR, PYRIN
Synonyms

NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
ID

http://purl.bioontology.org/ontology/OMIM/608107
altLabel

NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE

MEFV

PYRIN

FAMILIAL MEDITERRANEAN FEVER GENE

MARENOSTRIN

FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

FAMILIAL MEDITERRANEAN FEVER
cui

C0031069

C1417104

C1851347

C0085077
Gene Locus

16p13
Gene Symbol

PAAND

FMF

MEFV

MEF
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/608107.0012

http://purl.bioontology.org/ontology/OMIM/608107.0015

http://purl.bioontology.org/ontology/OMIM/608107.0014

http://purl.bioontology.org/ontology/OMIM/608107.0019

http://purl.bioontology.org/ontology/OMIM/608107.0017

http://purl.bioontology.org/ontology/OMIM/608107.0018

http://purl.bioontology.org/ontology/OMIM/608107.0011

http://purl.bioontology.org/ontology/OMIM/608107.0016

http://purl.bioontology.org/ontology/OMIM/608107.0010

http://purl.bioontology.org/ontology/OMIM/608107.0013

http://purl.bioontology.org/ontology/OMIM/608107.0002

http://purl.bioontology.org/ontology/OMIM/608107.0006

http://purl.bioontology.org/ontology/OMIM/608107.0003

http://purl.bioontology.org/ontology/OMIM/608107.0001

http://purl.bioontology.org/ontology/OMIM/608107.0008

http://purl.bioontology.org/ontology/OMIM/608107.0005

http://purl.bioontology.org/ontology/OMIM/608107.0007

http://purl.bioontology.org/ontology/OMIM/608107.0004

http://purl.bioontology.org/ontology/OMIM/608107.0009

http://purl.bioontology.org/ontology/OMIM/608107.0022

http://purl.bioontology.org/ontology/OMIM/608107.0021

http://purl.bioontology.org/ontology/OMIM/608107.0020
MIMTYPEMEANING

Gene with known sequence
notation

608107
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

MEFV INNATE IMMUNITY REGULATOR, PYRIN
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/12579009 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP33050-3 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D010505 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/M04.1 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10016207 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D010505 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002367 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12579009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/2871-4310 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016207 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10016211 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-1519 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016211 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/277.31 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/C3731 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-94450 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MDRGER/10016211 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D010505 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10016207 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003413 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10042673 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10/L98.2 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10042673 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/84625002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D016463 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10000748 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/L98.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10042673 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10000748 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10000748 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D0-30160 SNMI CUI
http://purl.bioontology.org/ontology/RCD/M228. RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D016463 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/84625002 SNOMEDCT CUI
http://www.orpha.net/ORDO/Orphanet_123191 ORDO LOOM