distal arthrogryposis type 2A

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Summary

Literature (0)

DOID:0111605 - distal arthrogryposis type 2A

Disease Ontology Definition:A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.

Synonyms: DA2A, distal arthrogryposis type 2A (Freeman-Sheldon),

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: myh3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Freeman-Sheldon syndrome (is_a), autosomal dominant disease (is_a)