# distal arthrogryposis

> muscle tissue disease characterized by congenital joint contractures of hand and feet

**Wikidata**: [Q18553375](https://www.wikidata.org/wiki/Q18553375)  
**Source**: https://4ort.xyz/entity/distal-arthrogryposis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
4. Mutations in ECEL1 cause distal arthrogryposis type 5D
5. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
6. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)