Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Temtamy preaxial brachydactyly syndrome CHSY1 disease C1854466 Biomarker 0.72 orphanet , disgenet
Temtamy preaxial brachydactyly syndrome CHSY1 disease C1854466 GermlineCausalMutation 0.72 orphanet , disgenet
Temtamy preaxial brachydactyly syndrome CHSY1 disease C1854466 CausalMutation 0.72 orphanet , disgenet
Temtamy preaxial brachydactyly syndrome CHSY1 disease C1854466 GeneticVariation 0.72 orphanet , disgenet
Temtamy preaxial brachydactyly syndrome TGDS disease C1854466 GeneticVariation 0.01 disgenet
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