# Ullrich congenital muscular dystrophy

> Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence

**Wikidata**: [Q3711812](https://www.wikidata.org/wiki/Q3711812)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy)  
**Source**: https://4ort.xyz/entity/ullrich-congenital-muscular-dystrophy


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142173/Orphanet_75840)
7. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142156/Orphanet_75840)
9. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163359/Orphanet_75840)
11. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. UMLS 2023