loading...| Preferred Name |
Apert syndrome |
|
| Synonyms |
Acrocephalosyndactyly type 1 |
|
| Definitions |
A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_87 |
|
| alternative_term |
Acrocephalosyndactyly type 1 ACS1 |
|
| definition |
A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
UMLS:C0001193 MedDRA:10002943 ICD-11:LD24.G2 ICD-10:Q87.0 OMIM:101200 |
|
| label |
Apert syndrome |
|
| notation |
ORPHA:87 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98650 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
|
| prefixIRI |
ORDO:Orphanet_87 |
|
| prefLabel |
Apert syndrome |
|
| present_in |
Australia AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 1.2 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 1.1 AND has_point_prevalence_range : 1-9 / 100 000 Canada AND has_point_prevalence_average_value : 1.47 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_range : 1-9 / 100 000 Spain AND has_birth_prevalence_average_value : 1.1 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown Canada AND has_birth_prevalence_average_value : 1.47 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_139393 http://www.orpha.net/ORDO/Orphanet_98650 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
|
| subClassOf |