BabelNet

bn:27080323n

Noun Named Entity

osteoporosis-pseudoglioma syndrome ocular form of osteogenesis imperfecta OPPG Ops Osteogenesis Imperfecta, Ocular Form

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 Wikidata

Definitions

Relations

Sources

IS A

disease

osteogenesis imperfecta

retinopathy

syndrome

autosomal recessive disease

GENETIC ASSOCIATION

LRP5

HEALTH SPECIALTY

medical genetics

Wikidata

osteoporosis-pseudoglioma syndrome

Wikidata Alias

ocular form of osteogenesis imperfecta, OPPG, Ops, Osteogenesis Imperfecta, Ocular Form, Osteogenesis imperfecta ocular form, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG, Osteoporosis pseudoglioma syndrome, Pseudoglioma with bone fragility