loading...| Preferred Name |
Crouzon syndrome |
|
| Synonyms |
Crouzon craniofacial dysostosis |
|
| Definitions |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_207 |
|
| alternative_term |
Crouzon craniofacial dysostosis |
|
| definition |
Crouzon disease is characterized by craniosynostosis and facial hypoplasia. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=207 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
ICD-10:Q75.1 ICD-11:LD24.G1 OMIM:123500 |
|
| label |
Crouzon syndrome |
|
| notation |
ORPHA:207 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139393 |
|
| prefixIRI |
ORDO:Orphanet_207 |
|
| prefLabel |
Crouzon syndrome |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.9 AND has_birth_prevalence_range : 1-9 / 1 000 000 Canada AND has_point_prevalence_average_value : 1.65 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 2.6 AND has_birth_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139393 |
|
| subClassOf |