Term Name: | distal arthrogryposis type 2A |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111605] ( DOID:0111605 ) |