About   Help   FAQ
Disease Ontology Browser
osteoporosis-pseudoglioma syndrome (DOID:0060849)
Alliance: disease page
Synonyms: ocular form of osteogenesis imperfecta; OPPG
Alt IDs: OMIM:259770, ICD10CM:Q87.5, MESH:C536063, ORDO:2788, UMLS_CUI:C0432252
Definition: An autosomal recessive disease 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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/05/2017
MGI 6.11
The Jackson Laboratory