loading...| Preferred Name |
osteoporosis-pseudoglioma syndrome |
|
| Synonyms |
OPPG osteoporosis-pseudoglioma syndrome ocular form of osteogenesis imperfecta Ops pseudoglioma with bone fragility osteogenesis imperfecta, ocular form osteoporosis pseudoglioma syndrome osteogenesis imperfecta ocular form |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009820 |
|
| has_exact_synonym |
OPPG osteoporosis-pseudoglioma syndrome ocular form of osteogenesis imperfecta |
|
| has_related_synonym |
Ops pseudoglioma with bone fragility osteogenesis imperfecta, ocular form osteoporosis pseudoglioma syndrome osteogenesis imperfecta ocular form |
|
| IAO_0000233 | ||
| label |
osteoporosis-pseudoglioma syndrome |
|
| prefixIRI |
MONDO:0009820 |
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| prefLabel |
osteoporosis-pseudoglioma syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020247 http://purl.obolibrary.org/obo/MONDO_0800064 |