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Summary Literature (0)
DOID:0060849 - osteoporosis-pseudoglioma syndrome


Disease Ontology 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.

Synonyms: OPPG, ocular form of osteogenesis imperfecta

Xenbase Genes : lrp5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009820 - osteoporosis-pseudoglioma syndrome

OMIM:
OMIM:259770 - OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)