loading...| Preferred Name |
Osteogenesis imperfecta |
|
| Synonyms |
OI |
|
| Definitions |
A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_666 |
|
| alternative_term |
OI Brittle bone disease Glass bone disease Lobstein disease |
|
| definition |
A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
|
| hasDbXref |
OMIM:166230 OMIM:615220 ICD-11:LD24.K0 OMIM:610915 OMIM:166210 OMIM:166220 UMLS:C0029434 OMIM:259440 OMIM:615066 MedDRA:10031243 OMIM:613848 OMIM:613849 MeSH:D010013 OMIM:259420 OMIM:613982 OMIM:614856 OMIM:619131 OMIM:610968 OMIM:610967 OMIM:610682 OMIM:619795 OMIM:616229 OMIM:166200 ICD-10:Q78.0 OMIM:616507 |
|
| label |
Osteogenesis imperfecta |
|
| notation |
ORPHA:666 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_666 |
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| prefLabel |
Osteogenesis imperfecta |
|
| present_in |
Latin America AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 Ireland AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 6.95 AND has_birth_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 8.06 AND has_point_prevalence_range : 1-5 / 10 000 China AND has_point_prevalence_average_value : 0.375 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 6.4 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |