Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615280
http://purl.bioontology.org/ontology/OMIM/615280
Preferred Name

CARDIOFACIOCUTANEOUS SYNDROME 4
Synonyms
CFC4
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CFC4
prefLabel
CARDIOFACIOCUTANEOUS SYNDROME 4
Gene Symbol
PRKMK2
MKK2
MEK2
MAP2K2
CFC4
Scope Statement
Caused by mutation in mitogen-activated protein kinase kinase 2 (MAP2K2, 601263.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU004401
http://purl.bioontology.org/ontology/OMIM/MTHU005509
http://purl.bioontology.org/ontology/OMIM/MTHU000231
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU016869
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU001061
http://purl.bioontology.org/ontology/OMIM/MTHU069604
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU001154
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU037147
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU006083
http://purl.bioontology.org/ontology/OMIM/MTHU052237
http://purl.bioontology.org/ontology/OMIM/MTHU038278
http://purl.bioontology.org/ontology/OMIM/MTHU009332
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU001440
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU000155
http://purl.bioontology.org/ontology/OMIM/MTHU002944
http://purl.bioontology.org/ontology/OMIM/MTHU013230
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU030713
http://purl.bioontology.org/ontology/OMIM/MTHU069603
http://purl.bioontology.org/ontology/OMIM/MTHU003098
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000094
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tui
T047
Gene Locus
19p13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615280
Semantic type UMLS property
Has inheritance type
cui
C3809007
OMIM Entry Type
3
OMIM MimType Value
pound
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