Search Ontology:
Human Disease

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
(all 7)
Ontology
Human Disease   ( DOID:0060849 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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