loading...| Preferred Name |
Osteoporosis-pseudoglioma syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_2788 |
| alternative_term |
OPPG Ocular form of osteogenesis imperfecta |
| definition |
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous 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 |
MedDRA:10052452 ICD-10:Q87.5 OMIM:259770 ICD-11:LD24.KY MeSH:C536063 UMLS:C0432252 |
| label |
Osteoporosis-pseudoglioma syndrome |
| notation |
ORPHA:2788 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_98641 http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_519327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_93446 |
| 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_611327 http://www.orpha.net/ORDO/Orphanet_98641 http://www.orpha.net/ORDO/Orphanet_519286 http://www.orpha.net/ORDO/Orphanet_519327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_93446 |
| subClassOf |