# SADDAN

> autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16

**Wikidata**: [Q259765](https://www.wikidata.org/wiki/Q259765)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Severe_achondroplasia_with_developmental_delay_and_acanthosis_nigricans)  
**Source**: https://4ort.xyz/entity/saddan


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/MONDO_0014658)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/Orphanet_85165)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)