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健康与疾病 - 遗传性疾病

在这里,你将学习一些与遗传疾病相关的英语单词,如“白化病”、“血友病”和“营养不良”。

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a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues

马凡综合征, 马凡病

马凡综合征, 马凡病

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a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity

神经纤维瘤病

神经纤维瘤病

Ex: Genetic counseling is recommended for individuals with a family history of neurofibromatosis.
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genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins

努南综合征, 努南遗传性疾病

努南综合征, 努南遗传性疾病

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a genetic disorder with symptoms like insatiable appetite, obesity, intellectual disability, and developmental delays caused by gene deletion or loss of function on chromosome 15

普瑞德-威利综合征, 普瑞德-威利病

普瑞德-威利综合征, 普瑞德-威利病

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a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations

雷特综合征, 雷特病

雷特综合征, 雷特病

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a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death

泰-萨克斯病, GM2神经节苷脂沉积症

泰-萨克斯病, GM2神经节苷脂沉积症

Ex: Genetic counseling is crucial in high-risk populations with a history of Tay-Sachs disease.在有**泰-萨克斯病**病史的高风险人群中,遗传咨询至关重要。
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thalassemia
[名词]

a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe

地中海贫血, 珠蛋白生成障碍性贫血

地中海贫血, 珠蛋白生成障碍性贫血

Ex: Awareness campaigns focus on education and early detection of thalassemia in high-risk populations .意识宣传活动侧重于高危人群中**地中海贫血**的教育和早期发现。
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a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics

抽动秽语综合征, 图雷特氏症

抽动秽语综合征, 图雷特氏症

Ex: Many individuals with Tourette's lead successful lives, and symptoms may improve with age.许多患有**抽动秽语综合症**的人过着成功的生活,症状可能会随着年龄的增长而改善。
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albinism
[名词]

a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin

白化病

白化病

Ex: Albinism is caused by inherited genetic mutations affecting melanin production .**白化病**是由影响黑色素生产的遗传基因突变引起的。
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a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15

天使综合征, 安格曼病

天使综合征, 安格曼病

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a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations

阿佩尔综合征, 阿佩尔病

阿佩尔综合征, 阿佩尔病

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a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands

夏科-马里-图斯病, 遗传性感觉运动神经病

夏科-马里-图斯病, 遗传性感觉运动神经病

Ex: There is no cure for CMT, but physical therapy helps manage symptoms.**夏科-玛丽-图斯病**无法治愈,但物理疗法有助于控制症状。
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a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

先天性肾上腺增生症, 先天性肾上腺皮质增生症

先天性肾上腺增生症, 先天性肾上腺皮质增生症

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a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications

囊性纤维化, 囊肿性纤维化

囊性纤维化, 囊肿性纤维化

Ex: Individuals with cystic fibrosis often experience chronic lung infections due to the difficulty in clearing mucus from the airways .
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a genetic condition caused by the presence of an extra copy of chromosome 21, leading to intellectual disabilities, distinct facial features, and potential health issues

唐氏综合症, 21三体综合症

唐氏综合症, 21三体综合症

Ex: Down syndrome does not have a cure, but supportive care and educational interventions can enhance quality of life.**唐氏综合症**没有治愈方法,但支持性护理和教育干预可以提高生活质量。
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a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production

埃勒斯-当洛综合征, 埃勒斯-当洛病

埃勒斯-当洛综合征, 埃勒斯-当洛病

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a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage

法布里病, 法布里症

法布里病, 法布里症

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a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function

脆性X综合征, 脆性X染色体综合征

脆性X综合征, 脆性X染色体综合征

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hemophilia
[名词]

a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding

血友病, 遗传性出血性疾病

血友病, 遗传性出血性疾病

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a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage

血色素沉着症

血色素沉着症

Ex: Early detection and intervention are crucial to prevent complications associated with hemochromatosis.
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a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences

克兰费尔特综合征

克兰费尔特综合征

Ex: Increased awareness of Klinefelter syndrome aids in early detection and intervention .对**克兰费尔特综合征**的认识提高有助于早期发现和干预。
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a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges

特纳综合征

特纳综合征

Ex: Turner syndrome can be associated with various health issues, including heart and kidney abnormalities.**特纳综合征**可能与各种健康问题有关,包括心脏和肾脏异常。
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a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits

威廉姆斯综合征, 威廉姆斯病

威廉姆斯综合征, 威廉姆斯病

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a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms

亨廷顿病, 亨廷顿舞蹈症

亨廷顿病, 亨廷顿舞蹈症

Ex: Research efforts aim to develop potential therapies for Huntington's disease.研究努力旨在开发**亨廷顿病**的潜在疗法。
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a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications

镰状细胞病, 镰状细胞贫血

镰状细胞病, 镰状细胞贫血

Ex: Sickle cell disease is more prevalent in individuals of African, Mediterranean, and Middle Eastern descent.**镰状细胞病**在非洲、地中海和中东血统的个体中更为普遍。
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dystrophy
[名词]

a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles

营养不良

营养不良

Ex: Nerve degeneration led to numbness in neurotrophic dystrophy.神经变性导致神经营养性**营养不良**中的麻木。
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a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency

冯·威勒布兰德病, 冯·威勒布兰德因子缺乏症

冯·威勒布兰德病, 冯·威勒布兰德因子缺乏症

Ex: Von Willebrand disease is usually inherited and can vary in severity.
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健康与疾病
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