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disease: Multiple epiphyseal dysplasia 3

id1180
nameMultiple epiphyseal dysplasia 3
descriptionAutosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
variant-disease NM_001853.4(COL9A3):c.183+4A>C AND Multiple epiphyseal dysplasia 3
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) AND Multiple epiphyseal dysplasia 3
NM_001853.4(COL9A3):c.369+2T>C AND Multiple epiphyseal dysplasia 3
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) AND Multiple epiphyseal dysplasia 3
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) AND Multiple epiphyseal dysplasia 3
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