Term Name: Miura type epiphyseal chondrodysplasia
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)

Relationships
is a type of: autosomal dominant disease bone development disease