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| Term | proximal symphalangism 1 | ID (Ontology) | DOID:0080787 (Human Disease) |
| 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. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease__ bone disease________________| syndrome____________________| proximal symphalangism |__proximal symphalangism 1 |
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| Is a | proximal symphalangism | ||
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External Crossreferences & Linkouts
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| MIM:185800 | |||