Crouzon syndrome

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Information
Disease name
Crouzon syndrome
Disease ID
DOID:2339
Description
"A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene." [url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:http\://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, url:https\://www.faces-cranio.org/crouzon]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:2340
Cross Reference ID (Disease Ontology)
GARD:6206
Cross Reference ID (Disease Ontology)
ICD10CM:Q75.1
Cross Reference ID (Disease Ontology)
MESH:D003394
Cross Reference ID (Disease Ontology)
MIM:123500
Cross Reference ID (Disease Ontology)
NCI:C84653
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:28861008
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0010273
Exact Synonym (Disease Ontology)
Craniofacial Dysostosis
Disase Synonym (Disease Ontology)
Crouzon's disease