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distal arthrogryposis type 1
Summary
- Synonym
-
- DA1
- digitotalar dysmorphism
- Definition
- A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.
- Super Class
- distal arthrogryposis
External Links
- Disease Ontology
- DOID:0111596
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 17879 | Myh1 | myosin, heavy polypeptide 1, skeletal muscle, adult | |
| 17882 | Myh2 | myosin, heavy polypeptide 2, skeletal muscle, adult | |
| 17883 | Myh3 | myosin, heavy polypeptide 3, skeletal muscle, embryonic | |
| 17884 | Myh4 | myosin, heavy polypeptide 4, skeletal muscle | |
| 17888 | Myh6 | myosin, heavy polypeptide 6, cardiac muscle, alpha | |
| 140781 | Myh7 | myosin, heavy polypeptide 7, cardiac muscle, beta | |
| 544791 | Myh13 | myosin, heavy polypeptide 13, skeletal muscle | |
| 668940 | Myh7b | myosin, heavy chain 7B, cardiac muscle, beta |
