Miura Type Epiphyseal Chondrodysplasia
Disease ID: disease_node_15719
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:615923, ORDO:329191 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080006 |
| Data Source | DOID |
| Synonyms | ECDM, tall stature-scoliosis-macrodactyly of the great toes syndrome, tall stature-scoliosis-macrodactyly of the halluces syndrome |
| Doid Label | Miura type epiphyseal chondrodysplasia |
| Doid Description | A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15719 |
| Doid Id | DOID_0070316 |
| Label | Miura Type Epiphyseal Chondrodysplasia |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Development Disease(ID:disease_node_15615) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)