Disease-gene associations mined from literature

Human genes for Miura type epiphyseal chondrodysplasia

Miura type epiphyseal chondrodysplasia [DOID:0070316]

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.

Synonyms:  Miura type epiphyseal chondrodysplasia,  DOID:0070316,  Miura type epiphyseal chondrodysplasias,  ECDM,  tall stature-scoliosis-macrodactyly of the great toes syndrome ...