Version: 8.0.0
Date: Tue Jan 28 2025
osteoporosis-pseudoglioma syndrome
DOID:0060849
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

osteoporosis-pseudoglioma syndrome

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
  • ocular form of osteogenesis imperfecta
  • OPPG
Cross References
Parent Terms
Child Terms
None
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