多发性骨软骨瘤（multiple osteochondromas，MO）为常染色体显性遗传，具有遗传异质性（genetically heterogeneous），由EXT 基因家族之一突变所致。
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该病具有遗传异质性，致病基因包含TSC1基因和TSC2基因，分别于1997年和1993年被克隆出。
TSC displays genetic heterogeneity with two known genes: TSC1 and TSC2, which was cloned in 1997 and 1993 respectively.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
因为，HSP是一组具有明显临床和遗传异质性的疾病，临床诊断和分型有一定的困难。
It is difficult to have a diagnosis of HSP for HSP is a clinically and genetically heterogeneous group of disorders.
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