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Entry Name Description Category Pathway Gene
H00492 SHOX-related short stature ... growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes. Congenital malformation SHOX [HSA:6473] [KO:K09331]
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