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

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/123500 http://purl.bioontology.org/ontology/OMIM/123500
Preferred Name	CROUZON SYNDROME
Synonyms	CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS CRANIOFACIAL DYSOSTOSIS, TYPE I
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS CRANIOFACIAL DYSOSTOSIS, TYPE I
prefLabel	CROUZON SYNDROME
Gene Symbol	TK14 JWS BEK CFD1 FGFR2 BBDS See more See less
Scope Statement	Associated with increased paternal age [MISCELLANEOUS] Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU018779 http://purl.bioontology.org/ontology/OMIM/MTHU001542 http://purl.bioontology.org/ontology/OMIM/MTHU018784 http://purl.bioontology.org/ontology/OMIM/MTHU003865 http://purl.bioontology.org/ontology/OMIM/MTHU034594 http://purl.bioontology.org/ontology/OMIM/MTHU005732 http://purl.bioontology.org/ontology/OMIM/MTHU018781 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU008056 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU036398 http://purl.bioontology.org/ontology/OMIM/MTHU018783 http://purl.bioontology.org/ontology/OMIM/MTHU014800 http://purl.bioontology.org/ontology/OMIM/MTHU018780 http://purl.bioontology.org/ontology/OMIM/MTHU005346 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036345 http://purl.bioontology.org/ontology/OMIM/MTHU018782 http://purl.bioontology.org/ontology/OMIM/MTHU036356 http://purl.bioontology.org/ontology/OMIM/MTHU018785 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU001173 See more See less
tui	T047
Gene Locus	10q26
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	123500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2931196
OMIM Entry Type	3
OMIM MimType Value	pound

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