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/MTHU034594

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/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/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

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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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0007405 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007405 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/DOID_2339 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_207 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D003394 Medical Subject Headings / 医学主题词表 CUI