| Metadata | |
|---|---|
| ID | DOID:0060849 |
| Name | osteoporosis-pseudoglioma syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/11719191, https://www.ncbi.nlm.nih.gov/pubmed/20034086, https://www.ncbi.nlm.nih.gov/pubmed/3955877 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254112001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ocular form of osteogenesis imperfecta [EXACT] OPPG [EXACT] |
| Parent Relationships |
is_a syndrome |