Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/619869
http://purl.bioontology.org/ontology/OMIM/619869
Preferred Name

NEUROCARDIOFACIODIGITAL SYNDROME
Synonyms
NCFD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
NCFD
prefLabel
NEUROCARDIOFACIODIGITAL SYNDROME
Gene Symbol
MAPKAPK5
PRAK
NCFD
Scope Statement
Caused by mutation in the mitogen-activated protein kinase-activated protein kinase-5 gene (MAPKAPK5, 606723.0001) [MOLECULAR BASIS]
Phenotypic variability [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU075449
http://purl.bioontology.org/ontology/OMIM/MTHU001739
http://purl.bioontology.org/ontology/OMIM/MTHU032182
http://purl.bioontology.org/ontology/OMIM/MTHU075442
http://purl.bioontology.org/ontology/OMIM/MTHU059553
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU075445
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU075455
http://purl.bioontology.org/ontology/OMIM/MTHU075450
http://purl.bioontology.org/ontology/OMIM/MTHU001623
http://purl.bioontology.org/ontology/OMIM/MTHU075452
http://purl.bioontology.org/ontology/OMIM/MTHU041069
http://purl.bioontology.org/ontology/OMIM/MTHU075448
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU027643
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU075447
http://purl.bioontology.org/ontology/OMIM/MTHU036699
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU005530
http://purl.bioontology.org/ontology/OMIM/MTHU075441
http://purl.bioontology.org/ontology/OMIM/MTHU075453
http://purl.bioontology.org/ontology/OMIM/MTHU075443
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU001788
http://purl.bioontology.org/ontology/OMIM/MTHU036550
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU075446
http://purl.bioontology.org/ontology/OMIM/MTHU013668
http://purl.bioontology.org/ontology/OMIM/MTHU075444
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU075440
http://purl.bioontology.org/ontology/OMIM/MTHU007070
http://purl.bioontology.org/ontology/OMIM/MTHU068329
http://purl.bioontology.org/ontology/OMIM/MTHU002115
http://purl.bioontology.org/ontology/OMIM/MTHU000241
http://purl.bioontology.org/ontology/OMIM/MTHU002945
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU075451
http://purl.bioontology.org/ontology/OMIM/MTHU075438
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU075454
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU075439
http://purl.bioontology.org/ontology/OMIM/MTHU075436
http://purl.bioontology.org/ontology/OMIM/MTHU075437
http://purl.bioontology.org/ontology/OMIM/MTHU030342
http://purl.bioontology.org/ontology/OMIM/MTHU036821
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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tui
T047
Gene Locus
12q24.12-q24.13
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
619869
Semantic type UMLS property
Has inheritance type
cui
C5677020
OMIM Entry Type
3
OMIM MimType Value
pound
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