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Egészség és Betegség - Genetikai rendellenességek
Itt megtanulhat néhány olyan angol szót, amelyek olyan genetikai rendellenességekkel kapcsolatosak, mint az "albinizmus", a "hemofília" és a "dystrophia".
Áttekintés
Villámkártyák
Betűzés
Kvíz
a genetic disorder characterized by connective tissue abnormalities, leading to various physical manifestations including tall stature, long limbs, joint hypermobility, and cardiovascular issues
Marfan-szindróma
a genetic disorder causing the growth of tumors on nerves throughout the body, with varying symptoms and severity
neurofibromatosis
genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins
Noonan-szindróma, noonanisztikus
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
Prader-Willi szindróma, Prader és Willi szindróma
a genetic disorder in girls causing developmental regression, communication impairments, and neurological issues due to MECP2 gene mutations
Rett-szindróma
a rare genetic disorder characterized by the progressive deterioration of the nervous system, typically leading to early childhood death
Tay-Sachs betegség, Tay-Sachs rendellenesség
a genetic blood disorder characterized by reduced production of hemoglobin, leading to anemia, and it can range from mild to severe
thalassaemia
a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics
Tourette-szindróma, Tourette szindróma (tik)
a genetic condition characterized by a lack of pigmentation in the skin, hair, and eyes, resulting in a significant reduction or absence of melanin
albinizmus
a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15
Angelman-szindróma, Angelman-szindróma (ritka genetikai betegség)
a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae
ankilózáló spondilitis, krónikus gyulladásos ízületi gyulladás
a genetic disorder with craniofacial abnormalities, fused fingers or toes, and skeletal issues due to FGFR2 gene mutations
Apert-szindróma, Apert-szindróma (genetikai rendellenesség)
a group of inherited neurological disorders affecting the peripheral nerves, leading to muscle weakness and atrophy, particularly in the feet and hands
Charcot-Marie-Tooth betegség, Charcot-Marie-Tooth szindróma
a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands
veleszületett mellékvese hiperplázia, veleszületett mellékvese betegség
a genetic disorder causing the production of thick and sticky mucus, affecting the respiratory and digestive systems and leading to various complications
cisztás fibrózis, fibrózis ciszta
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
Down-szindróma, 21-es triszómia
a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production
Ehlers-Danlos szindróma, Ehlers-Danlos betegség
a rare genetic disorder causing the build-up of a fatty substance in organs, leading to symptoms like pain, skin lesions, and organ damage
Fabry-kór, fabriózis
a genetic disorder causing intellectual disability, developmental delays, and other symptoms due to a gene mutation that affects normal brain function
fragilis X szindróma, Fragile X szindróma
a mostly inherited genetic disorder in which the blood does not clot properly, leading to excessive or spontaneous bleeding
hemofília
a genetic disorder characterized by excessive absorption and accumulation of iron in the body, leading to potential organ damage
hemokromatózis
a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences
Klinefelter-szindróma, Klinefelter-szindróma (genetikai állapot)
a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges
Turner-szindróma, Turner-szindróma (genetikai állapot)
a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency
von Willebrand betegség, von Willebrand faktor hiány
a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits
Williams-szindróma
a hereditary neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric symptoms
Huntington-kór, Huntington-corea
a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications
sarlósejtes betegség, drepanocytosis
a category of disorders characterized by the progressive degeneration or weakening of tissues, particularly muscles
dystrophia, izomdisztrofia
