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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
マルファン症候群
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
神経線維腫症
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
ヌーナン症候群
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
プラダー・ウィリ症候群
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
レット症候群
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
テイサックス病
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
サラセミア
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
トウレット症候群
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
白皮症
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
エンジェルマン症候群
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
強直性脊椎炎
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
アペール症候群
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
シャルコー・マリー・トゥース病
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
先天性副腎過形成
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
嚢胞性線維症
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
ダウン症
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
エーラス・ダンロス症候群
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
ファブリー病
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
脆弱X症候群
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
血友病
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
ヘモクロマトーシス
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
クラインフェルター症候群
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
ターナー症候群
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
フォン・ヴィレブランド病
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
ウィリアムズ症候群
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
ハンチントン病
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
鎌状赤血球症
