# Antley-Bixler syndrome

> autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene

**Wikidata**: [Q585011](https://www.wikidata.org/wiki/Q585011)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Antley–Bixler_syndrome)  
**Source**: https://4ort.xyz/entity/antley-bixler-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000066468/MONDO_0008803)
8. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
9. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)