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Distal Arthrogryposis Type 2B3

Disease ID: disease_node_15786

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DbxrefMIM:618436
SubclassofDOID_0050736, DOID_0111599
Data SourceDOID
SynonymsDA2B3, distal arthrogryposis type 2B3 (Sheldon-Hall)
Doid Labeldistal arthrogryposis type 2B3
Doid DescriptionA distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15786
Doid IdDOID_0111602
LabelDistal Arthrogryposis Type 2B3