loading...| Preferred Name |
Fibrodysplasia ossificans progressiva |
|
| Synonyms |
FOP |
|
| Definitions |
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_337 |
|
| alternative_term |
FOP Myositis ossificans progressiva Stone man syndrome |
|
| definition |
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Not applicable Autosomal dominant |
|
| hasDbXref |
OMIM:135100 MeSH:D009221 MedDRA:10068715 ICD-10:M61.1 ICD-11:FB31.1 UMLS:C0016037 |
|
| label |
Fibrodysplasia ossificans progressiva |
|
| notation |
ORPHA:337 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_183484 http://www.orpha.net/ORDO/Orphanet_93450 http://www.orpha.net/ORDO/Orphanet_364531 http://www.orpha.net/ORDO/Orphanet_611327 |
|
| prefixIRI |
ORDO:Orphanet_337 |
|
| prefLabel |
Fibrodysplasia ossificans progressiva |
|
| present_in |
Europe AND has_point_prevalence_average_value : 0.078 AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_birth_prevalence_average_value : 0.087 AND has_birth_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.061 AND has_point_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.036 AND has_point_prevalence_range : <1 / 1 000 000 France AND has_point_prevalence_average_value : 0.136 AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 United States AND has_point_prevalence_average_value : 0.085 AND has_point_prevalence_range : <1 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_183484 http://www.orpha.net/ORDO/Orphanet_93450 http://www.orpha.net/ORDO/Orphanet_364531 http://www.orpha.net/ORDO/Orphanet_611327 |
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| subClassOf |