Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/608107
http://purl.bioontology.org/ontology/OMIM/608107
Preferred Name

MEFV INNATE IMMUNITY REGULATOR, PYRIN
Synonyms
NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
MEFV
PYRIN
FAMILIAL MEDITERRANEAN FEVER GENE
MARENOSTRIN
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
FAMILIAL MEDITERRANEAN FEVER
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
MEFV
PYRIN
FAMILIAL MEDITERRANEAN FEVER GENE
MARENOSTRIN
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
FAMILIAL MEDITERRANEAN FEVER
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prefLabel
MEFV INNATE IMMUNITY REGULATOR, PYRIN
Gene Symbol
PAAND
FMF
MEFV
MEF
notation
608107
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
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OMIM MimType Value
star
Semantic type UMLS property
OMIM Entry Type
1
type
MIMTYPEMEANING
Gene with known sequence
Gene Locus
16p13
Phenotype of
http://purl.bioontology.org/ontology/OMIM/608107.0012
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/608107.0007
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
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tui
T047
T028
cui
C0031069
C1417104
C1851347
C0085077
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