loading...| Preferred Name |
Marfan syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_558 |
| alternative_term |
MFS |
| definition |
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
OMIM:154700 ICD-10:Q87.4 MeSH:D008382 UMLS:C0024796 MedDRA:10026829 OMIM:610168 ICD-11:LD28.01 |
| label |
Marfan syndrome |
| notation |
ORPHA:558 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_284993 http://www.orpha.net/ORDO/Orphanet_522564 http://www.orpha.net/ORDO/Orphanet_522554 |
| prefixIRI |
ORDO:Orphanet_558 |
| prefLabel |
Marfan syndrome |
| present_in |
Europe AND has_annual_incidence_average_value : 25.0 AND has_annual_incidence_range : 1-5 / 10 000 United States AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_average_value : 15.0 AND has_point_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 10.2 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 20.0 AND has_point_prevalence_range : 1-5 / 10 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_498448 http://www.orpha.net/ORDO/Orphanet_519292 http://www.orpha.net/ORDO/Orphanet_139030 http://www.orpha.net/ORDO/Orphanet_284993 http://www.orpha.net/ORDO/Orphanet_522564 http://www.orpha.net/ORDO/Orphanet_522554 |
| subClassOf |