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Proximal Symphalangism 1

Disease ID: disease_node_19035

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DbxrefMIM:185800
SubclassofDOID_0050788
Data SourceDOID
Doid Labelproximal symphalangism 1
Doid DescriptionA proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.
Disease Node Iddisease_node_19035
Doid IdDOID_0080787
LabelProximal Symphalangism 1