syndromic intellectual disability syndromic disease autosomal recessive disease osteoporosis-pseudoglioma syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6562 https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome https://www.malacards.org/card/osteoporosis_pseudoglioma_syndrome NCIT:C130998 osteogenesis imperfecta ocular form MEDGEN:98480 DOID:0060849 Ops GARD:0004160 Orphanet:2788 OPPG MONDO:0009820 pseudoglioma with bone fragility osteogenesis imperfecta, ocular form MedDRA:10052452 UMLS:C0432252 MESH:C536063 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. OMIM:259770 osteoporosis pseudoglioma syndrome obsolete primary bone dysplasia with decreased bone density congenital vitreoretinal dysplasia LRP5-related exudative vitreoretinopathy osteogenesis imperfecta and a reduction of bone mineral density.