# dentin dysplasia

> teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology

**Wikidata**: [Q5259533](https://www.wikidata.org/wiki/Q5259533)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Dentin_dysplasia)  
**Source**: https://4ort.xyz/entity/dentin-dysplasia


## References

1. Disease Ontology
2. Human Phenotype Ontology release 2018-03-08
3. Freebase Data Dumps. 2013
4. Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization
5. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)