# Stickler syndrome

> rare genetic disorder affecting collagen

**Wikidata**: [Q2288646](https://www.wikidata.org/wiki/Q2288646)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Stickler_syndrome)  
**Source**: https://4ort.xyz/entity/stickler-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome
5. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene
6. A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon
7. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0019354)
9. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
10. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. [Stickler Syndrome](https://old.reddit.com/r/SticklerSyndrome/)