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parastremmatic dwarfism

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
Uniprot Description A bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion and bowing of the extremities, and contractures of the large joints. Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses.
Mondo Term and Equivalent IDs
MONDO:0008196:  parastremmatic dwarfism
DOID:0111539: 
GARD:0004222: 
MESH:C537172: 
Orphanet:2646: 
SCTID:722210007: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found