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Schmid metaphyseal chondrodysplasia

Disease Summary
Associated Targets (2)
Tbio

1

Tdark

1


Explore Associated Targets
Mondo Description Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Uniprot Description Dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.
Mondo Term and Equivalent IDs
MONDO:0007983:  Schmid metaphyseal chondrodysplasia
GARD:0007029: 
MESH:C537352: 
Orphanet:174: 
SCTID:29248006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found