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metaphyseal chondrodysplasia, Spahr type

Disease Summary
Associated Targets (1)
Tchem

1


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Uniprot Description An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets.
Mondo Term and Equivalent IDs
MONDO:0009597:  metaphyseal chondrodysplasia, Spahr type
GARD:0003563: 
MESH:C537353: 
Orphanet:2501: 
SCTID:254084008: 
UMLS:C0432225: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found