Metadata | |
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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 | |
Synonyms |
DA2A [EXACT] distal arthrogryposis type 2A (Freeman-Sheldon) [EXACT] |
Parent Relationships |