Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CROUZON SYNDROME
Synonyms

CFD1

CROUZON CRANIOFACIAL DYSOSTOSIS

CRANIOFACIAL DYSOSTOSIS, TYPE I
ID

http://purl.bioontology.org/ontology/OMIM/123500
altLabel

CFD1

CROUZON CRANIOFACIAL DYSOSTOSIS

CRANIOFACIAL DYSOSTOSIS, TYPE I
cui

C2931196
Gene Locus

10q26
Gene Symbol

TK14

JWS

BEK

CFD1

FGFR2

BBDS
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

123500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CROUZON SYNDROME
Scope Statement

Associated with increased paternal age [MISCELLANEOUS]

Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, 176943.0001) [MOLECULAR BASIS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D003394 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D003394 MESH CUI
http://purl.obolibrary.org/obo/DOID_2339 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 HSPO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2339 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010273 OCHV LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Crouzon_Syndrome PEDTERM LOOM
http://identifiers.org/omim/123500 REXO LOOM
http://identifiers.org/omim/123500 GEXO LOOM
http://identifiers.org/omim/123500 RETO LOOM
http://www.orpha.net/ORDO/Orphanet_207 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2339 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2339 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2339 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2339 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2339 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2339 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PG04. RCD LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/28861008 SNOMEDCT LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17907 DERMLEX LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00C05 SNMI LOOM
http://purl.obolibrary.org/obo/OMIM_123500 CCO LOOM
http://purl.obolibrary.org/obo/HIO_0000193 HIO LOOM
http://purl.org/skeletome/bonedysplasia#Crouzon_syndrome BDO LOOM
rgo:08707 GAMUTS LOOM