# Leber congenital amaurosis 10

> Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has material basis in mutation in the CEP290 gene on chromosome 12q21.32

**Wikidata**: [Q27677710](https://www.wikidata.org/wiki/Q27677710)  
**Source**: https://4ort.xyz/entity/leber-congenital-amaurosis-10


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)