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metatropic dysplasia

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Uniprot Description A severe spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis. Radiologic features include severe platyspondyly, severe metaphyseal enlargement and shortening of long bones.
Mondo Term and Equivalent IDs
MONDO:0007986:  metatropic dysplasia
DOID:0111514: 
GARD:0003571: 
MESH:C537356: 
Orphanet:2635: 
SCTID:22764001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)