# Dowling-Degos disease

> pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases

**Wikidata**: [Q7316720](https://www.wikidata.org/wiki/Q7316720)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures)  
**Source**: https://4ort.xyz/entity/dowling-degos-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease
5. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
6. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)