osteoporosis-pseudoglioma syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
MONDO:0700228
LRP5-related exudative vitreoretinopathy
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
OPPG
exact
osteogenesis imperfecta ocular form
related
osteoporosis pseudoglioma syndrome
related
osteoporosis-pseudoglioma syndrome
exact
pseudoglioma with bone fragility
related