# osteoporosis-pseudoglioma syndrome

> Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures

**Wikidata**: [Q32136402](https://www.wikidata.org/wiki/Q32136402)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Osteoporosis-pseudoglioma_syndrome)  
**Source**: https://4ort.xyz/entity/osteoporosis-pseudoglioma-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000162337/MONDO_0009820)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000162337/Orphanet_2788)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)