Visualize Submit Comment

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/16642020, https://www.ncbi.nlm.nih.gov/pubmed/19571066
Xrefs	OMIM:193700
Synonyms	DA2A [EXACT] distal arthrogryposis type 2A (Freeman-Sheldon) [EXACT]
Parent Relationships	is_a Freeman-Sheldon syndrome is_a autosomal dominant disease