Term Name: | distal arthrogryposis type 2B3 |
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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 ) |