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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/619142
http://purl.bioontology.org/ontology/OMIM/619142
Preferred Name

CARDIOACROFACIAL DYSPLASIA 1
Synonyms
CAFD1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CAFD1
prefLabel
CARDIOACROFACIAL DYSPLASIA 1
Gene Symbol
CAFD1
PRKACA
notation
619142
Scope Statement
Death may occur in neonatal period or infancy due to respiratory failure [MISCELLANEOUS]
Caused by mutation in the alpha catalytic cAMP-dependent protein kinase gene (PRKACA, 601639.0002) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013181
http://purl.bioontology.org/ontology/OMIM/MTHU008217
http://purl.bioontology.org/ontology/OMIM/MTHU036684
http://purl.bioontology.org/ontology/OMIM/MTHU060599
http://purl.bioontology.org/ontology/OMIM/MTHU002225
http://purl.bioontology.org/ontology/OMIM/MTHU022149
http://purl.bioontology.org/ontology/OMIM/MTHU072736
http://purl.bioontology.org/ontology/OMIM/MTHU072735
http://purl.bioontology.org/ontology/OMIM/MTHU007743
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU037878
http://purl.bioontology.org/ontology/OMIM/MTHU064384
http://purl.bioontology.org/ontology/OMIM/MTHU000259
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU002784
http://purl.bioontology.org/ontology/OMIM/MTHU072738
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU065008
http://purl.bioontology.org/ontology/OMIM/MTHU038292
http://purl.bioontology.org/ontology/OMIM/MTHU020952
http://purl.bioontology.org/ontology/OMIM/MTHU036841
http://purl.bioontology.org/ontology/OMIM/MTHU000710
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU041724
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU007730
http://purl.bioontology.org/ontology/OMIM/MTHU012198
http://purl.bioontology.org/ontology/OMIM/MTHU032275
http://purl.bioontology.org/ontology/OMIM/MTHU036724
http://purl.bioontology.org/ontology/OMIM/MTHU059491
http://purl.bioontology.org/ontology/OMIM/MTHU066115
http://purl.bioontology.org/ontology/OMIM/MTHU011293
http://purl.bioontology.org/ontology/OMIM/MTHU005316
http://purl.bioontology.org/ontology/OMIM/MTHU072737
http://purl.bioontology.org/ontology/OMIM/MTHU009953
http://purl.bioontology.org/ontology/OMIM/MTHU008431
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
19p13.1
tui
T047
cui
C5436885
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