Search Ontology:
Human Disease
osteoporosis-pseudoglioma syndrome
- Term ID
- DOID:0060849
- Synonyms
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- 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
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- GARD:4160
- MESH:C536063
- MIM:259770
- NCI:C130998
- ORDO:2788
- SNOMEDCT_US_2023_03_01:254112001
- UMLS_CUI:C0432252
- Ontology
- Human Disease ( DOID:0060849 )
- is a type of
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Genes Involved
Zebrafish Models