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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
마르판 증후군
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
신경섬유종증
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
누난 증후군, 누난 이론
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
프라더-윌리 증후군, 프라더와 윌리 증후군
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
레트 증후군
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
테이색스병, 테이색스 질환
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
지중해빈혈
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
투렛 증후군, 투렛 증후군 (틱)
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
얼비니즘
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
안젤만 증후군, 안젤만 증후군 (희귀 유전 질환)
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
강직성 척추염, 만성 염증성 관절염
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
아퍼트 증후군, 아퍼트 증후군 (유전 질환)
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
샤르코-마리-투스병, 샤르코-마리-투스 증후군
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
선천성 부신 과형성, 부신 선천성 비대증
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
낭포성 섬유증, 시스틱 피브로시스
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
다운 증후군, 21번 염색체 트리소미
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
엘러스-단로스 증후군, 엘러스-단로스 병
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
파브리병, 파브리증
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
취약 X 증후군, Fragile X 증후군
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
혈우병
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
헤모크로마토시스
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
클라인펠터 증후군, 클라인펠터 증후군 (유전적 질환)
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
터너 증후군, 터너 증후군 (유전적 질환)
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
폰윌레브란트병, 폰윌레브란트 인자 결핍
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
윌리엄스 증후군
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
헌팅턴병, 헌팅턴 무도병
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
겸상 적혈구 질환, 드레파노시토시스
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
지속위축, 근육위축증
