# ABCD syndrome

> Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)

**Wikidata**: [Q3508565](https://www.wikidata.org/wiki/Q3508565)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/ABCD_syndrome)  
**Source**: https://4ort.xyz/entity/abcd-syndrome


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. [Phenocarta release 2016-02-04](https://omim.org/entry/600501)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023
6. Quora