Term Name: | Miura type epiphyseal chondrodysplasia |
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Synonyms: | ECDM, tall stature-scoliosis-macrodactyly of the great toes syndrome, tall stature-scoliosis-macrodactyly of the halluces syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0070316] ( DOID:0070316 ) |