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Disease Ontology Browser
osteoporosis-pseudoglioma syndrome (DOID:0060849)
Alliance: disease page
Synonyms: ocular form of osteogenesis imperfecta; OPPG
Alt IDs: OMIM:259770, MESH:C536063, NCI:C130998, ORDO:2788, UMLS_CUI:C0432252
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory