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| Term | proximal symphalangism 2 | ID (Ontology) | DOID:0080788 (Human Disease) |
| Definition | A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. | ||
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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 2 |
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| Is a | proximal symphalangism | ||
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External Crossreferences & Linkouts
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| MIM:615298 | |||