Genetics: diseases — симптомы, диагностика и лечение
19 заболеваний · 39 clinics · page 1 of 2
Hemophilia
Hemophilia is a hereditary blood clotting disorder in which one of the protein factors involved in the formation of a strong clot is missing. Almost exclusively men are affected, and the disease is transmitted through female carriers. The popular understanding of hemophilia is greatly distorted: it is commonly believed that a person with this diagnosis can bleed to death from a cut. In fact, minor cuts and abrasions stop almost like everyone else, because the first stage of coagulation - the work of platelets - is not impaired. The danger is different: the blood is not retained deep in the tissues, and hemorrhages occur in the joints and muscles, delayed bleeding after tooth extraction and operations. It is repeated bleeding into the joints, and not cuts, that determine the fate of the joint and the quality of life - and this is what modern treatment prevents.
МКБ-10: D66 3 clinics
Down syndrome
Down syndrome is a genetic disorder in which cells have an extra, third copy of chromosome 21. This is not a disease in the usual sense of the word and not the result of someone’s mistake: in the vast majority of cases, an extra chromosome appears accidentally during the formation of a germ cell, and this cannot be influenced in any way. People with Down syndrome study, work, play sports, create relationships, and their life expectancy has increased over the past decades from about twenty-five years to fifty-five to sixty - largely thanks to modern cardiac surgery and competent medical support. What really changes the quality of life are two things: timely monitoring of concomitant conditions, primarily the heart and thyroid gland, and early developmental assistance, starting from the first months of life.
МКБ-10: Q90 6 clinics
Achondroplasia
Achondroplasia is the most common form of disproportionate short stature. The reason is a change in the FGFR3 gene, due to which the growth of cartilage in the growth areas of long bones is excessively inhibited. Bones that grow from cartilage - the shoulder, hip, base of the skull - are shortened, and those that are formed differently, such as the calvarium and vertebrae, suffer less. Therefore, they are characterized by short arms and legs with an almost normal body length, a large head with a protruding forehead and a depressed bridge of the nose. Intellect is completely preserved. The main task of observation is to notice complications in the respiratory, middle ear and spine in a timely manner and help the child live an active life.
МКБ-10: Q77.4 12 clinics
Huntington's disease
Huntington's disease is a hereditary brain disease in which neurons gradually die in the deep structures responsible for controlling movement, emotions and thinking. The classic triad includes chorea - involuntary rapid sweeping movements that a person often disguises as gestures, changes in character and mood, and a gradual decline in memory and ability to plan. The disease is transmitted in an autosomal dominant manner: each child of an affected parent has a fifty percent chance of inheriting the mutation, regardless of gender. The first signs usually appear between 30 and 50 years. There is no treatment to stop the process yet, but the symptoms can be significantly alleviated.
МКБ-10: G10 17 clinics
G6PD deficiency (favism)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition of red blood cells in which they lack an enzyme that protects against oxidative damage. Most of the time a person is completely healthy, but when encountering a provocateur - some medications, fava beans, infection - red blood cells begin to be destroyed en masse. A hemolytic crisis develops: weakness, pallor, jaundice and dark, tea-colored urine. The gene is transmitted linked to the X chromosome, so men are more often affected; the condition is common in Mediterranean countries, Asia and Africa. It is impossible to cure a deficiency, but if you know the list of prohibited substances, life proceeds normally, and crises do not recur.
МКБ-10: D55.0 10 clinics
Ichthyosis
Ichthyosis is a group of hereditary diseases in which the formation of the stratum corneum of the skin is impaired. The scales do not exfoliate in time, accumulate and make the skin dry, rough, covered with plates resembling fish scales. This is not a consequence of poor care and is not contagious: the reason is changes in genes responsible for proteins and fats of the skin barrier. The severity is very different: the most common form is mild and looks like severe dryness with small scales on the legs, and rare congenital forms appear from birth and require serious care. Ichthyosis cannot be cured, but proper daily care makes the skin almost normal.
МКБ-10: Q80 7 clinics
Microcephaly
Microcephaly is not an independent disease, but a sign: the child’s head circumference is significantly less than the average for his age and gender. The skull grows with the brain, so a reduced head size almost always reflects underdevelopment or damage to brain tissue. Microcephaly can be congenital, when it is noticed at birth, and acquired, when the head grows too slowly in the first months and years. There are many reasons: genetic characteristics, previous intrauterine infections, oxygen starvation during childbirth, metabolic disorders. One measurement in itself does not prove anything: the dynamics of head growth, the size of the parents and how the child develops are important.
МКБ-10: Q02 14 clinics
Cystic fibrosis
Cystic fibrosis, or cystic fibrosis, is a hereditary disease in which the protein responsible for transporting chlorine across the cell membrane is disrupted. Because of this, the secretions of the glands become thick and viscous: mucus clogs the bronchi, maintaining a chronic infection, and the pancreatic ducts become blocked, and food is not completely digested. Hence the combination of constant cough, repeated pneumonia, copious fatty stools and poor weight gain with a good appetite. The disease is transmitted from both carrier parents, who are themselves healthy. The diagnosis is confirmed by a sweat test and genetic testing. Modern treatment can significantly prolong and improve life.
МКБ-10: E84 13 clinics
Neurofibromatosis
Neurofibromatosis is a group of hereditary diseases in which the functioning of genes that inhibit the growth of nerve tissue cells is disrupted. Because of this, benign tumors form along the nerves, and characteristic spots appear on the skin. The most common variant is neurofibromatosis type 1, which is usually recognized in childhood by light brown café-au-lait spots and freckle-like rashes in the armpits and inguinal folds. Neurofibromatosis type 2 is less common and manifests primarily as bilateral tumors of the auditory nerves with hearing loss. The disease cannot be cured, but regular monitoring allows you to identify and solve emerging problems in a timely manner.
МКБ-10: Q85.0 17 clinics
Sickle cell anemia
Sickle cell anemia is a hereditary disease in which hemoglobin is changed: instead of the usual one, hemoglobin S is produced. When the oxygen content decreases, such hemoglobin sticks together into long fibers, and the red blood cell turns from a flexible disk into a hard sickle. Such cells quickly break down, causing permanent anemia, and clog small vessels, cutting off blood flow to the tissues. Hence, the main manifestation of the disease is sudden attacks of severe pain in the bones, abdomen, and chest. The disease manifests itself from early childhood and requires lifelong monitoring, but modern approaches significantly reduce the frequency of crises and prolong life. The parents of the gene carrier are usually healthy themselves.
МКБ-10: D57 3 clinics
Clinics Ташкента, где лечат эти заболевания
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Toshkent
🚶 550 m
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Oybek
🚶 850 m
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Kosmonavtlar
🚶 1.3 km
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Nearest bus stop
🚶 150 m
· buses: 22
Healthy children - Yunusabad branch
Private · Yunusabad district
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Turkiston
🚶 1.5 km
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Yunusobod
🚶 2.0 km
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Shahriston
🚶 2.8 km
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Nearest bus stop
🚶 100 m
· buses: 7
Healthy children - Chilanzar branch
Private · Chilanzar district
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Novza
🚶 400 m
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Mirzo Ulug'bek
🚶 650 m
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Milliy bog'
🚶 1.3 km
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Nearest bus stop
🚶 170 m
· buses: 9Т, 56
Branch No. 3: Birlashgan street, opposite the 4-City Clinical Hospital
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Tuzel
🚶 750 m
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Yashnobod
🚶 800 m
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Texnopark
🚶 1.4 km
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Nearest bus stop
🚶 200 m
· buses: 22
Talabalar street 96, near the Ministry of Higher Education
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Amir Temur xiyoboni
🚶 200 m
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Ming O'rik
🚶 500 m
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O'zbekiston
🚶 900 m
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Nearest bus stop
🚶 240 m
· buses: 19, 37, 38, 51
Birlashgan street, Yashnabad district, Tashkent Landmark: opposite the 4-City Clinical Hos...
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Yashnobod
🚶 1.2 km
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Tuzel
🚶 1.3 km
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Texnopark
🚶 1.6 km
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Nearest bus stop
🚶 180 m
· buses: 18, 30, 44, 49
Здоровые дети (Мирзо-Улугбекский филиал)
Медицинский центр · Mirzo-Ulugbek district
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Pushkin
🚶 1000 m
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Hamid Olimjon
🚶 1.0 km
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Do'stlik
🚶 2.0 km
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Nearest bus stop
🚶 110 m
· buses: 21
Здоровые дети (Sergeliйский филиал)
Медицинский центр · Sergeli district
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Yangihayot
🚶 2.0 km
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Sergeli
🚶 3.0 km
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Nearest bus stop
🚶 180 m
· buses: 59
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Oybek
🚶 2.4 km
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Kosmonavtlar
🚶 2.6 km
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Novza
🚶 2.9 km
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Nearest bus stop
🚶 70 m
· buses: 2, 11, 12, 40, 45, 47
Center for Reproductive Medicine
Медицинский центр · Almazar district
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Minor
🚶 2.4 km
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Bodomzor
🚶 2.4 km
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Shahriston
🚶 2.5 km
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Nearest bus stop
🚶 180 m
· buses: 5
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G'afur G'ulom
🚶 900 m
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Chorsu
🚶 1.2 km
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Alisher Navoiy
🚶 1.4 km
🚌
Nearest bus stop
🚶 260 m
· buses: 17, 43
Akfa Medline - medical center in Tashkent
Private · Almazar district
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Beruniy
🚶 500 m
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Tinchlik
🚶 1.1 km
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Chorsu
🚶 2.9 km
🚌
Nearest bus stop
🚶 190 m
· buses: 31, 34
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Beruniy
🚶 3.6 km
🚌
Nearest bus stop
🚶 170 m
· buses: 42
🚌
Nearest bus stop
🚶 30 m
· buses: 1, 17, 25
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Mashinasozlar
🚶 1.1 km
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Do'stlik
🚶 1.1 km
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Hamid Olimjon
🚶 1.6 km
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Nearest bus stop
🚶 50 m
· buses: 28
City Clinical Hospital of Emergency Medical Care (Emergency)
State · Chilanzar district
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Olmazor
🚶 3.2 km
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Chilonzor
🚶 3.2 km
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Mirzo Ulug'bek
🚶 3.6 km
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Nearest bus stop
🚶 320 m
· buses: 13, 17T, 33
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Olmazor
🚶 1.2 km
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Chilonzor
🚶 1.7 km
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Mirzo Ulug'bek
🚶 2.5 km
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Nearest bus stop
🚶 310 m
· buses: 8, 41
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Olmazor
🚶 1.2 km
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Chilonzor
🚶 1.7 km
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Mirzo Ulug'bek
🚶 2.5 km
🚌
Nearest bus stop
🚶 260 m
· buses: 8, 41
Research Institute of Hematology and Blood Transfusion
Медицинский центр · Chilanzar district
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Olmazor
🚶 2.6 km
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Chilonzor
🚶 2.7 km
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O'zgarish
🚶 2.8 km
🚌
Nearest bus stop
🚶 80 m
· buses: 38, 40, 57, 58
Research Institute of Hematology and Blood Transfusion
State · Chilanzar district
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Chilonzor
🚶 550 m
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Mirzo Ulug'bek
🚶 800 m
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Olmazor
🚶 1.5 km
🚌
Nearest bus stop
🚶 60 m
· buses: 34, 56
Genotexnologiya - Medical Center
Private · Shaykhantakhur district
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Chorsu
🚶 1.5 km
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Tinchlik
🚶 1.9 km
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Milliy bog'
🚶 2.1 km
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Nearest bus stop
🚶 190 m
· buses: 20, 27, 35, 46, 53
AKFA Medline University Hospital (AMUH) - Inpatient
Private · Almazar district
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Beruniy
🚶 500 m
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Tinchlik
🚶 1.1 km
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Chorsu
🚶 2.9 km
🚌
Nearest bus stop
🚶 190 m
· buses: 31, 34
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Olmazor
🚶 1.8 km
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Chilonzor
🚶 2.0 km
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Mirzo Ulug'bek
🚶 2.7 km
🚌
Nearest bus stop
🚶 20 m
· buses: 2, 9Т, 13, 17T, 41, 56
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Oybek
🚶 1.2 km
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Kosmonavtlar
🚶 1.5 km
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O'zbekiston
🚶 1.8 km
🚌
Nearest bus stop
🚶 110 m
· buses: 18, 38, 57, 58
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Oybek
🚶 300 m
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Kosmonavtlar
🚶 450 m
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O'zbekiston
🚶 950 m
🚌
Nearest bus stop
🚶 160 m
· buses: 57
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Hamid Olimjon
🚶 1.5 km
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Mashinasozlar
🚶 1.5 km
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Ming O'rik
🚶 1.7 km
🚌
Nearest bus stop
🚶 240 m
· buses: 14
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Minor
🚶 900 m
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Bodomzor
🚶 1.0 km
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Abdulla Qodiriy
🚶 1.3 km
🚌
Nearest bus stop
🚶 320 m
· buses: 35
Research Institute of Phthisiology and Pulmonology
State · Shaykhantakhur district
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Mirzo Ulug'bek
🚶 2.2 km
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Novza
🚶 2.4 km
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Chilonzor
🚶 2.5 km
🚌
Nearest bus stop
🚶 160 m
· buses: 43
ProfMedService medical center in Tashkent
Private · Yunusabad district
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Yunusobod
🚶 250 m
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Shahriston
🚶 850 m
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Turkiston
🚶 950 m
🚌
Nearest bus stop
🚶 150 m
· buses: 24, 50, 51
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Mirzo Ulug'bek
🚶 1.2 km
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Novza
🚶 1.2 km
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Milliy bog'
🚶 1.8 km
🚌
Nearest bus stop
🚶 20 m
· buses: 2, 9Т
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Mustaqillik maydoni
🚶 750 m
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Alisher Navoiy
🚶 850 m
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O'zbekiston
🚶 1.1 km
🚌
Nearest bus stop
🚶 260 m
· buses: 28, 44, 46, 57
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Alisher Navoiy
🚶 1.1 km
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G'afur G'ulom
🚶 1.3 km
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Abdulla Qodiriy
🚶 1.7 km
🚌
Nearest bus stop
🚶 90 m
· buses: 35
Republican Specialized Scientific and Practical Medical Center of Phthisiology and Pulmonology
State · Shaykhantakhur district
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Novza
🚶 1.8 km
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Milliy bog'
🚶 2.0 km
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Mirzo Ulug'bek
🚶 2.1 km
🚌
Nearest bus stop
🚶 70 m
· buses: 23
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Yunusobod
🚶 1.3 km
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Turkiston
🚶 1.3 km
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Shahriston
🚶 2.0 km
🚌
Nearest bus stop
🚶 70 m
· buses: 43, 51
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Chorsu
🚶 1.2 km
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Tinchlik
🚶 1.8 km
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Xalqlar Do'stligi
🚶 1.9 km
🚌
Nearest bus stop
🚶 50 m
· buses: 20, 27, 35, 46, 53
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Buyuk Ipak Yo'li
🚶 200 m
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Pushkin
🚶 1.8 km
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Hamid Olimjon
🚶 2.8 km
🚌
Nearest bus stop
🚶 70 m
· buses: 1, 24
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Quyliq
🚶 1.4 km
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Matonat
🚶 1.6 km
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Yangiobod
🚶 1.7 km
🚌
Nearest bus stop
🚶 60 m
· buses: 15, 26
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Oybek
🚶 450 m
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Kosmonavtlar
🚶 450 m
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O'zbekiston
🚶 950 m
🚌
Nearest bus stop
🚶 40 m
· buses: 18, 38, 55, 58
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Choshtepa
🚶 2.8 km
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O'zgarish
🚶 3.2 km
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Oybek
🚶 3.6 km
🚌
Nearest bus stop
🚶 280 m
· buses: 9Т, 12
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