Term Name: | proximal symphalangism 1 |
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Synonyms: | |
Definition: | A 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. |
Ontology: | Human Disease [DOID:0080787] ( DOID:0080787 ) |