# Leber congenital amaurosis 11

> Leber congenital amaurosis that has material basis in mutation n the IMPDH1 gene on chromosome 7q31.3-q32

**Wikidata**: [Q27677680](https://www.wikidata.org/wiki/Q27677680)  
**Source**: https://4ort.xyz/entity/leber-congenital-amaurosis-11


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)