Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 disease C1837756 CausalMutation 0.71 orphanet , disgenet
Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 disease C1837756 Biomarker 0.71 orphanet , disgenet
Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 disease C1837756 GeneticVariation 0.71 orphanet , disgenet
Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 disease C1837756 GermlineCausalMutation 0.71 orphanet , disgenet
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