Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

CROUZON SYNDROME
Synonyms

CROUZON CRANIOFACIAL DYSOSTOSIS
ID

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

CROUZON CRANIOFACIAL DYSOSTOSIS

CRANIOFACIAL DYSOSTOSIS, TYPE I

CFD1
cui

C2931196
Gene Locus

10q26
Gene Symbol

TK14

FGFR2

BEK

BBDS

JWS

CFD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU036398

http://purl.bioontology.org/ontology/OMIM/MTHU001173

http://purl.bioontology.org/ontology/OMIM/MTHU018781

http://purl.bioontology.org/ontology/OMIM/MTHU018784

http://purl.bioontology.org/ontology/OMIM/MTHU026925

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU008056

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU002205

http://purl.bioontology.org/ontology/OMIM/MTHU048444

http://purl.bioontology.org/ontology/OMIM/MTHU005346

http://purl.bioontology.org/ontology/OMIM/MTHU014800

http://purl.bioontology.org/ontology/OMIM/MTHU018779

http://purl.bioontology.org/ontology/OMIM/MTHU018780

http://purl.bioontology.org/ontology/OMIM/MTHU005732

http://purl.bioontology.org/ontology/OMIM/MTHU018783

http://purl.bioontology.org/ontology/OMIM/MTHU018787

http://purl.bioontology.org/ontology/OMIM/MTHU018785

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU018782

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036356
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

123500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CROUZON SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2339 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D003394 Medical Subject Headings CUI