loading...| Preferred Name |
Osteoporosis-pseudoglioma syndrome |
|
| Synonyms |
Ocular form of osteogenesis imperfecta |
|
| Definitions |
A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2788 |
|
| alternative_term |
Ocular form of osteogenesis imperfecta OPPG |
|
| definition |
A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
OMIM:259770 MedDRA:10052452 UMLS:C0432252 ICD-10:Q87.5 ICD-11:LD24.KY MeSH:C536063 |
|
| label |
Osteoporosis-pseudoglioma syndrome |
|
| notation |
ORPHA:2788 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_93446 http://www.orpha.net/ORDO/Orphanet_522568 |
|
| prefixIRI |
ORDO:Orphanet_2788 |
|
| prefLabel |
Osteoporosis-pseudoglioma syndrome |
|
| present_in |
Europe AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_522548 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_93446 http://www.orpha.net/ORDO/Orphanet_522568 |
|
| subClassOf |