Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility IRX5 disease C1970027 GermlineCausalMutation 0.7 disgenet
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility IRX5 disease C1970027 Biomarker 0.7 disgenet
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility IRX5 disease C1970027 GeneticVariation 0.7 disgenet
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility IRX5 disease C1970027 CausalMutation 0.7 disgenet
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