distal arthrogryposis type 2A Disease Ontology Browser

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Disease Ontology Browser

distal arthrogryposis type 2A (DOID:0111605)
Alliance: disease page
Synonyms: DA2A; distal arthrogryposis type 2A (Freeman-Sheldon)
Alt IDs: OMIM:193700
Definition: A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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