FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term osteoporosis-pseudoglioma syndrome ID (Ontology) DOID:0060849 (Human Disease)
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.
Also Known As "ocular form of osteogenesis imperfecta" ; "OPPG"
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 Genes
 osteoporosis-pseudoglioma syndrome       2
 for disease ribbon | osteoporosis-pseudoglioma syndrome       2
 model of | osteoporosis-pseudoglioma syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 osteoporosis-pseudoglioma syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "ocular form of osteogenesis imperfecta" EXACT
    "OPPG" EXACT OMO:0003012
Secondary IDs
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GARD:4160
MESH:C536063
MIM:259770
NCI:C130998
ORDO:2788
SNOMEDCT_US_2023_03_01:254112001
UMLS_CUI:C0432252