# Ehlers-Danlos syndrome progeroid type

> Human disease

**Wikidata**: [Q18553484](https://www.wikidata.org/wiki/Q18553484)  
**Source**: https://4ort.xyz/entity/ehlers-danlos-syndrome-progeroid-type


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome
5. Cloning and Expression of a Proteoglycan UDP-Galactose:β-Xylose β1,4-Galactosyltransferase I
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000027847/Orphanet_75496)
7. Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000176022/Orphanet_75496)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)
10. UMLS 2023