# Jansky–Bielschowsky disease

> autosomal recessive genetic disorder

**Wikidata**: [Q4354940](https://www.wikidata.org/wiki/Q4354940)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Jansky–Bielschowsky_disease)  
**Source**: https://4ort.xyz/entity/jansky-bielschowsky-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
4. Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse
5. The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
6. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis