Term Name: distal arthrogryposis type 2B3
Synonyms: DA2B3, distal arthrogryposis type 2B3 (Sheldon-Hall)
Definition: A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
Ontology: Human Disease [DOID:0111602]   ( DOID:0111602 )

Relationships
is a type of: autosomal dominant disease distal arthrogryposis type 2B