autosomal dominant disorder

1. Peutz-Jeghers syndrome ( PJS) is an autosomal dominant disorder characterized by multiple hamartomatous polyps of gastrointestinal tract, muco-cutaneous pigmentation and increased risk of malignancies in different organs.
   Peutz-Jeghers综合征（PJS）又称黑斑息肉综合征，是一种以皮肤粘膜黑斑、胃肠道多发息肉及恶性肿瘤发生率增加为特征的常染色体显性遗传病。
2. Familial periodic paralysis ( PP) is an autosomal dominant disorder characterized by episodic attacks of paralysis with different severity.
   家族性周期性麻痹（periodicparalysis，PP）是以反复发作骨骼肌迟缓性瘫痪为特征的一组疾病。
3. Conclusion: EXT is an autosomal dominant disorder and the penetrance is 97% in this report.
   结论：证实EXT为常染色体显性遗传病，本组外显率为97%。
4. Van der Woude syndrome ( VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/ or cleft palate.
   范德伍兹综合征（VanderWoudesyndrome，VWS，OMIM119300）是一种常染色体显性遗传病。其特征是家族性下唇瘘复合唇裂或腭裂，1／4的患者伴有缺牙（Hypodontia）。
5. Background Familial benign chronic pemphigus or Hailey-Hailey disease ( HHD; OMIM 169600) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas.
   研究背景：家族性慢性良性天疱疮，又称Hailey-Hailey病（HHD，OMIM169600）是一种罕见的常染色体显性遗传性皮肤病。
6. Malignant Hyperthermia ( MH) is a rare autosomal dominant disorder in which susceptible individuals may develop a potentially life threatening hypermetabolism when they were exposed to certain anesthetic agents.
   恶性高热症（MalignantHyperthermia，MH）是一种罕见的常染色体显性疾患，此病的易感个体在接触某些麻醉药物时可发生危及生命的高代谢状态。
7. Osteogenesis imperfecta ( OMIM 166200) is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.
   成骨不全病（OMIM166200）是一种常染色体显性遗传病，其临床表现以骨折及结缔组织异常为特征。
8. Background Pachyonychia congenita ( PC) is an autosomal dominant disorder that usually develops in early infancy.
   研究背景先天性厚甲症（PachyonychiacongenitaPC）是一种少见的常染色体显性遗传性皮肽病，为外胚叶发育不良性皮肤病。
9. Marfan syndrome, an autosomal dominant heritable disorder of connective tissue disease, is characterized by involvement of three major systems ( skeletal, ocular, and cardiovascular) due to alteration in microfibrils.
   Marfan综合征（Marfansyndrome，MFS）是一种常染色体显性遗传性结缔组织病，其病变的微纤维主要牵累3个组织器官系统：骨骼、眼和心血管。
10. Multiple endocrine neoplasia type 2 ( MEN2) is an autosomal dominant familial disorder characterized by occurrence of tumors or hyperplasias in cells of thyroid, adrenal medullary and hyperparathyroid.
    目的多发性内分泌腺瘤2型（Multipleendocrineneoplasiatype2，MEN2）是一种以甲状腺、肾上腺髓质和甲状旁腺神经内分泌细胞发生增生或瘤变的常染色体显性遗传病。
11. Tuberous sclerosis complex ( TSC) is an autosomal dominant disorder characterized by hamartomas in the affected organs.
    结节性硬化综合症（TuberousSclerosisComplex，TSC），是一种以全身多器官错构瘤病变为特征的常染色体显性遗传性疾病。
12. Disseminated superficial actinic porokeratosis ( DSAP) is an uncommon autosomal dominant chronic keratinization disorder.
    播散性浅表性光线性汗孔角化症（Disseminatedsuperficialactinicporokeratosis，DSAP）是一种少见的慢性角化性皮肤病，呈常染色体显性遗传。
13. Genetic studies have shown that familial hypertrophic cardiomy-opathy ( FHCM) is an autosomal dominant disorder of heart muscle. One of the mutations in genes encoding sarcomeric, proteins can result in this disease.
    家族性肥厚型心肌病（FHCM）系常染色体显性遗传性疾病，单一肌节蛋白基因突变即可致病。
14. Waardenburg syndrome ( WS) is the most common autosomal dominant inherited disorder in syndromic hearing loss and is classified into four types ( WS1-4) depending on clinical features.
    Waardenburg综合症（Waardenburgsyndrome，WS）是最常见的常染色体显性遗传性综合征型耳聋，根据临床特征分为4型（WS1-4）。

noun

1. a disease caused by a dominant mutant gene on an autosome

   Synonym:    autosomal dominant disease