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Preaxial Polydactyly Ii

Disease ID: disease_node_20136

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DbxrefGARD:5289, MIM:174500, ORDO:93336
SubclassofDOID_0050736, DOID_1148
Data SourceDOID
Synonymspolydactyly of a triphalangeal thumb
Doid Labelpreaxial polydactyly II
Doid DescriptionA polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20136
Doid IdDOID_0060986
LabelPreaxial Polydactyly Ii