Term Name: distal arthrogryposis type 2A
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 )

Relationships
is a type of: autosomal dominant disease Freeman-Sheldon syndrome