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DOID:0060849 - osteoporosis-pseudoglioma syndrome
Disease Ontology 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
Xenbase Genes
:
lrp5
| MONDO:0009820 - osteoporosis-pseudoglioma syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)