# porencephaly-microcephaly-bilateral congenital cataract syndrome

> human disease

**Wikidata**: [Q55784033](https://www.wikidata.org/wiki/Q55784033)  
**Source**: https://4ort.xyz/entity/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166086/MONDO_0013394)
5. UMLS 2023