Term Name:	osteoporosis-pseudoglioma syndrome
Synonyms:	ocular form of osteogenesis imperfecta, OPPG
Definition:	A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
Ontology:	Human Disease [DOID:0060849]   ( DOID:0060849 )