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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |