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स्वास्थ्य और बीमारी - आनुवंशिक विकार

यहां आप आनुवंशिक विकारों से संबंधित कुछ अंग्रेजी शब्द सीखेंगे जैसे "ऐल्बिनिज़म", "हीमोफिलिया", और "डिस्ट्रोफी"।

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Marfan syndrome

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

मार्फन सिन्ड्रोम

मार्फन सिन्ड्रोम

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neurofibromatosis

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

न्यूरोफाइब्रोमेटोसिस

न्यूरोफाइब्रोमेटोसिस

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Noonan syndrome

genetic disorder with characteristic facial features, short stature, developmental delays, and heart defects caused by mutations affecting cell signaling proteins

नूनन सिंड्रोम

नूनन सिंड्रोम

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Prader–Willi syndrome

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

प्रेडर-विली सिंड्रोम

प्रेडर-विली सिंड्रोम

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Rett syndrome

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

रिट सिंड्रोम

रिट सिंड्रोम

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tay-sachs disease

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

टे सेक्स रोग

टे सेक्स रोग

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thalassemia

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

थैलेसीमिया

थैलेसीमिया

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Tourette syndrome

a neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics

टॉरेट सिंड्रोम

टॉरेट सिंड्रोम

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albinism

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

रंगहीनता

रंगहीनता

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Angelman syndrome

a rare genetic disorder with developmental delays, intellectual disability, speech issues, and seizures, caused by gene mutations on chromosome 15

एंजेलमैन सिंड्रोम

एंजेलमैन सिंड्रोम

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ankylosing spondylitis

a chronic inflammatory arthritis primarily affecting the spine, causing pain, stiffness, and potential fusion of the vertebrae

रीढ़ के जोड़ों में गतिविधि-रोधक सूजन

रीढ़ के जोड़ों में गतिविधि-रोधक सूजन

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Apert syndrome

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

एपर्ट सिंड्रोम

एपर्ट सिंड्रोम

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charcot-marie-tooth disease

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

चारकोट-मैरी-टूथ रोग

चारकोट-मैरी-टूथ रोग

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congenital adrenal hyperplasia

a genetic disorder causing hormonal imbalances and abnormal development of secondary sexual characteristics due to impaired cortisol production by the adrenal glands

जन्मजात अधिवृक्कीय अधिवृद्धि

जन्मजात अधिवृक्कीय अधिवृद्धि

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cystic fibrosis

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

पुटीय तंतुशोथ

पुटीय तंतुशोथ

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Down syndrome

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

डाउन सिंड्रोम

डाउन सिंड्रोम

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Ehlers Danlos syndrome

a group of connective tissue disorders causing joint hypermobility, skin that bruises easily, and other symptoms due to abnormal collagen production

एहलर्स डानलोस सिंड्रोम

एहलर्स डानलोस सिंड्रोम

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Fabry disease

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

फैब्री रोग

फैब्री रोग

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fragile X syndrome

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

कमजोर एक्स लक्ष्ण

कमजोर एक्स लक्ष्ण

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hemophilia

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

हीमोफीलिया

हीमोफीलिया

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hemochromatosis

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

रक्तवर्णकता

रक्तवर्णकता

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Klinefelter syndrome

a genetic condition in males where there is an extra X chromosome, leading to developmental and hormonal differences

क्लाइनफेल्टर सिंड्रोम

क्लाइनफेल्टर सिंड्रोम

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turner syndrome

a genetic condition affecting females, where one of the X chromosomes is partially or completely missing, leading to various developmental and medical challenges

हत्थेदार बर्तन सहलक्षण

हत्थेदार बर्तन सहलक्षण

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Von Willebrand disease

a bleeding disorder due to a deficiency or dysfunction of a blood clotting protein, leading to increased bleeding tendency

वॉन विलेब्रांड रोग

वॉन विलेब्रांड रोग

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Williams syndrome

a rare genetic disorder characterized by distinctive facial features, developmental delays, and a unique cognitive profile, including strong verbal abilities and sociable personality traits

विलियम्स सिंड्रोम

विलियम्स सिंड्रोम

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Huntington's disease

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

हनटिंग्टन रोग

हनटिंग्टन रोग

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sickle-cell disease

a genetic blood disorder where red blood cells assume an abnormal, crescent shape, leading to various complications

सिकल सेल रोग

सिकल सेल रोग

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dystrophy

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

कुपोषण

कुपोषण

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