Proximal Symphalangism 2
Disease ID: disease_node_19034
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| Dbxref | MIM:615298 |
|---|---|
| Subclassof | DOID_0050788 |
| Data Source | DOID |
| Doid Label | proximal symphalangism 2 |
| Doid Description | 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. |
| Disease Node Id | disease_node_19034 |
| Doid Id | DOID_0080788 |
| Label | Proximal Symphalangism 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Proximal Symphalangism(ID:disease_node_19033) (Disease)