Online Mendelian Inheritance in Man - CRANIOFRONTONASAL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/304110 http://purl.bioontology.org/ontology/OMIM/304110
Preferred Name	CRANIOFRONTONASAL SYNDROME
Synonyms	CFNS CFND CRANIOFRONTONASAL DYSPLASIA CRANIOFRONTONASAL DYSOSTOSIS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CFNS CFND CRANIOFRONTONASAL DYSPLASIA CRANIOFRONTONASAL DYSOSTOSIS
prefLabel	CRANIOFRONTONASAL SYNDROME
Gene Symbol	EFNB1 EPLG2 CFND CFNS
Scope Statement	Expression more severe in females than males, except for mosaic males [MISCELLANEOUS] Primarily diagnosed in females [MISCELLANEOUS] Caused by mutation in the ephrin B1 gene (EFNB1, 300035.0001) [MOLECULAR BASIS] Possible genetic heterogeneity (linkage to Xp22 in some families) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU007696 http://purl.bioontology.org/ontology/OMIM/MTHU042357 http://purl.bioontology.org/ontology/OMIM/MTHU002079 http://purl.bioontology.org/ontology/OMIM/MTHU007883 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU007889 http://purl.bioontology.org/ontology/OMIM/MTHU007785 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU042359 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU007881 http://purl.bioontology.org/ontology/OMIM/MTHU007890 http://purl.bioontology.org/ontology/OMIM/MTHU042361 http://purl.bioontology.org/ontology/OMIM/MTHU042362 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU042364 http://purl.bioontology.org/ontology/OMIM/MTHU000567 http://purl.bioontology.org/ontology/OMIM/MTHU007882 http://purl.bioontology.org/ontology/OMIM/MTHU007878 http://purl.bioontology.org/ontology/OMIM/MTHU004811 http://purl.bioontology.org/ontology/OMIM/MTHU001148 http://purl.bioontology.org/ontology/OMIM/MTHU007894 http://purl.bioontology.org/ontology/OMIM/MTHU005818 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU007892 http://purl.bioontology.org/ontology/OMIM/MTHU007887 http://purl.bioontology.org/ontology/OMIM/MTHU007888 http://purl.bioontology.org/ontology/OMIM/MTHU042360 http://purl.bioontology.org/ontology/OMIM/MTHU007897 http://purl.bioontology.org/ontology/OMIM/MTHU007900 http://purl.bioontology.org/ontology/OMIM/MTHU042363 http://purl.bioontology.org/ontology/OMIM/MTHU042358 http://purl.bioontology.org/ontology/OMIM/MTHU000574 http://purl.bioontology.org/ontology/OMIM/MTHU042356 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU007880 http://purl.bioontology.org/ontology/OMIM/MTHU007901 http://purl.bioontology.org/ontology/OMIM/MTHU007899 http://purl.bioontology.org/ontology/OMIM/MTHU007895 http://purl.bioontology.org/ontology/OMIM/MTHU001436 http://purl.bioontology.org/ontology/OMIM/MTHU007891 http://purl.bioontology.org/ontology/OMIM/MTHU007886 http://purl.bioontology.org/ontology/OMIM/MTHU004091 See more See less
tui	T047
Gene Locus	Xq12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	304110
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU003993
cui	C0220767
Moved from	122920
OMIM Entry Type	3
OMIM MimType Value	pound

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