Preaxial Polydactyly I
Disease ID: disease_node_20137
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:4417, MIM:174400, ORDO:93339 |
|---|---|
| Subclassof | DOID_0050737, DOID_1148 |
| Data Source | DOID |
| Doid Label | preaxial polydactyly I |
| Doid Description | A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20137 |
| Doid Id | DOID_0060987 |
| Label | Preaxial Polydactyly I |
- Outgoing r'ship
SUBCLASS_OFto/from Polydactyly(ID:disease_node_9293) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)