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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

MIM:193700

Synonyms

DA2A [EXACT]

distal arthrogryposis type 2A (Freeman-Sheldon) [EXACT]

Parent Relationships

is_a Freeman-Sheldon syndrome

is_a autosomal dominant disease

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