Human genes for osteoporosis-pseudoglioma syndrome
Osteoporosis-pseudoglioma syndrome [DOID:0060849]
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: osteoporosis-pseudoglioma syndrome, DOID:0060849, osteoporosispseudoglioma syndrome, osteoporosis-pseudoglioma disease, osteoporosis-pseudoglioma disorder ...