distal arthrogryposis type 2B3

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Summary

Literature (0)

DOID:0111602 - distal arthrogryposis type 2B3

Disease Ontology Definition:A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.

Synonyms: DA2B3, distal arthrogryposis type 2B3 (Sheldon-Hall),

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

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

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

Parent(s): autosomal dominant disease (is_a), distal arthrogryposis type 2B (is_a)