osteoporosis-pseudoglioma syndrome

Term ID

DOID:0060849

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. (3)

References

• GARD:4160
• MESH:C536063
• NCI:C130998
• OMIM:259770
• ORDO:2788
• SNOMEDCT_US_2023_03_01:254112001
• UMLS_CUI:C0432252

Ontology

Human Disease   ( DOID:0060849 )