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distal arthrogryposis type 2A
Summary
- Synonym
-
- DA2A
- distal arthrogryposis type 2A (Freeman-Sheldon)
- Definition
- A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
- Super Class
- Freeman-Sheldon syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111605
- Mondo Disease Ontology
- OMIM
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 |
