| Metadata | |
|---|---|
| ID | DOID:0111605 |
| Name | distal arthrogryposis type 2A |
| Definition | A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. https://www.ncbi.nlm.nih.gov/pubmed/19571066, https://www.ncbi.nlm.nih.gov/pubmed/16642020 |
| Xrefs | |
| Synonyms |
DA2A [EXACT] distal arthrogryposis type 2A (Freeman-Sheldon) [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |