Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypoparathyroidism-retardation-dysmorphism syndrome TBCE disease C1855840 GeneticVariation 0.75 orphanet , disgenet
Hypoparathyroidism-retardation-dysmorphism syndrome TBCE disease C1855840 CausalMutation 0.75 orphanet , disgenet
Hypoparathyroidism-retardation-dysmorphism syndrome TBCE disease C1855840 GermlineCausalMutation 0.75 orphanet , disgenet
Hypoparathyroidism-retardation-dysmorphism syndrome TBCE disease C1855840 Biomarker 0.75 orphanet , disgenet
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