| Metadata | |
|---|---|
| ID | DOID:0080787 |
| Name | proximal symphalangism 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/16353259/ |
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