s/n14151139

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has gloss(noun) a disease or disorder that is inherited genetically
inherited disease, genetic disorder, hereditary condition, inherited disorder, congenital disease, genetic abnormality, genetic defect, hereditary disease, genetic disease
has glosseng: A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments.
has glosseng: A hereditary disease is a disease which can be passed down through generations of the same family.
lexicalizationeng: congenital disease
lexicalizationeng: genetic abnormality
lexicalizationeng: genetic defect
lexicalizationeng: genetic disease
lexicalizationeng: Genetic disorders
lexicalizationeng: genetic disorder
lexicalizationeng: hereditary condition
lexicalizationeng: Hereditary disease
lexicalizationeng: inherited disease
lexicalizationeng: inherited disorder
subclass of(noun) an impairment of health or a condition of abnormal functioning
disease
has subclass(noun) an inherited disease controlled by a single pair of genes
monogenic disease, monogenic disorder
has subclass(noun) an inherited disease controlled by several genes at once
polygenic disorder, polygenic disease
has subclass(noun) an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
achondroplasia, osteosclerosis congenita, chondrodystrophy, achondroplasty
has subclass(noun) a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
abetalipoproteinemia
has subclass(noun) any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
inborn error of metabolism
has subclass(noun) congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
congenital megacolon, Hirschsprung's disease
has subclass(noun) any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
mucopolysaccharidosis
has subclass(noun) a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
hyperbetalipoproteinemia
has subclass(noun) any of several congenital diseases in which the skin is dry and scaly like a fish
ichthyosis
has subclass(noun) an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
branched chain ketoaciduria, maple syrup urine disease
has subclass(noun) an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
McArdle's disease
has subclass(noun) any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
dystrophy, muscular dystrophy
has subclass(noun) congenital condition in which some fingers or toes are missing
oligodactyly
has subclass(noun) congenital condition in which some of the teeth are missing
oligodontia
has subclass(noun) hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
otosclerosis
has subclass(noun) a disease caused by a dominant mutant gene on an autosome
autosomal dominant disorder, autosomal dominant disease
has subclass(noun) a disease caused by the presence of two recessive mutant genes on an autosome
autosomal recessive disease, autosomal recessive defect
has subclass(noun) a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
Fanconi's anemia, congenital pancytopenia, Fanconi's anaemia
has subclass(noun) a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
juvenile amaurotic idiocy, Spielmeyer-Vogt disease
has subclass(noun) a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
congenital afibrinogenemia
has subclass(noun) an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
Albers-Schonberg disease, osteopetrosis, marble bones disease
has subclass(noun) thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
nevoid elephantiasis, pachyderma
has subclass(noun) a genetic abnormality resulting in short stature
dwarfism, nanism
has subclass(noun) congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
lactose intolerance, milk intolerance, lactase deficiency
has subclass(noun) a genetic abnormality of metabolism causing abdominal pains and mental confusion
porphyria
has subclass(noun) a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
Wilson's disease, hepatolenticular degeneration
Note: 417 other instance(s) ommited in the following list
has instancec/ar/أمراض متعلقة بالجنس
has instancee/de/Agonadismus
has instancee/de/Prothrombinmutation G20210A
has instancee/3-Methylcrotonyl-CoA carboxylase deficiency
has instancee/Albers-Schoenberg disease
has instancee/Celiac Sprue Association (CSA)
has instancee/Collagenopathy, types II and XI
has instancee/Hereditary pyropoikilocytosis
has instancee/McKusick-Kaufman syndrome
has instancee/Paroxysmal extreme pain disorder
has instancee/eu/Edwards sindromea
has instancee/eu/Turner sindromea
has instancee/fi/Nasu-Hakolan tauti
has instancee/fi/RHYNS-oireyhtymä
has instancee/fr/Albinisme oculaire lié à l'X
has instancec/fr/Collagénopathie
has instancee/fr/Dermatoglyphe
has instancee/fr/Fievre recurrente avec hyper-IgD
has instancee/fr/Intolerance aux proteines avec lysinurie
has instancee/fr/Maladie des urines a odeur de houblon
has instancee/fr/Maladies en rapport avec le collagène type VI
has instancee/fr/Maladies en rapport avec les mutations du gene IRF6
has instancee/fr/Myopathie congenitale myotubulaire
has instancee/fr/Myopathie distale de type Laing
has instancee/fr/Neuropathie hereditaire sensitive et autonomique de type I
has instancee/fr/Paralysie périodique hyperkaliémique
has instancee/fr/Pathologies oculaires par mutation du gene SOX2
has instancee/fr/Syndrome MASS
has instancee/fr/Syndrome Varadi-Papp
has instancee/fr/Syndrome d'Alport
has instancee/fr/Syndrome d'Ehlers-Danlos type classique
has instancee/fr/Syndrome de Waardenburg type 1
has instancee/fr/Syndrome de la corne occipitale
has instancee/fr/Syndrome oto-palato-digital
has instancee/it/Agammaglobulinemia autosomica recessiva
has instancee/ja/遺伝形式
has instancee/pl/Choroby związane z płcią
has instancee/pl/Zespół łokciowo-sutkowy
has instancec/ru/Генные болезни
has instancee/sv/Hypertrikos
Meaning
Arabic
has glossara: المرض الوراثي هو الحالة المرضية الناتجة من خلل أو اضطراب في جين واحد أو أكثر. يتم تلخيص وإيعاز مسببات الأمراض الوراثية إلى أحد الأسباب التالية: * أمراض ناتجة عن اضطرابات في أعداد الكروموسومات مثل ظاهرة داون. * أمراض ناتجة عن حدوث طفرات جينية مما يؤدي إلى إعطاب الجين وعدم تأديته لوظيفته بالشكل المطلوب مثل مرض هنتينكتون. * أمراض ناتجة عن توريث جينات معطوبة من الأبوين إلى الأبناء. تظهر هذه الأمراض عند تلاقي جينين متنحيين في الطفل أو عند سيؤدي إلى توريث المرض مثل الثلاسيميا.
lexicalizationara: أمراض وراثية
lexicalizationara: مرض وراثي
Azerbaijani
lexicalizationaze: İrsi xəstəliklər
Bosnian
lexicalizationbos: Genetski poremećaji
Catalan
has glosscat: Una alteració genètica o malaltia genètica indica tota desviació de lestat de salut total o parcial a la construcció genètica de lindividu, en el que factors ambientals poden complir una funció important en la gravetat de les síndromes. Moltes vegades també s'anomena "malformació congènita", terme que inclou qualsevol anomalia morfològica.
lexicalizationcat: Alteració genètica
Czech
has glossces: Genetická choroba, resp. dědičná či genetická nemoc je nemoc, která je geneticky zapříčiněna (např. Downův syndrom, srpkovitá anémie, cystická fibróza nebo Duchenneova svalová dystrofie), podmíněna (např. některé formy rakoviny) či podpořena (poslední skupina není započtena ve všech definicích genetických chorob). Genetické choroby studuje lékařská genetika.
lexicalizationces: Genetická choroba
lexicalizationces: Genetické choroby
lexicalizationces: dědičná choroba
Mandarin Chinese
lexicalizationcmn: yí chuán xìng jí bing
lexicalizationcmn: 遗传性疾病
lexicalizationcmn: 遺傳性疾病
Welsh
lexicalizationcym: Anhwylderau genetig
German
has glossdeu: Unter dem Oberbegriff Erbkrankheit werden allgemein solche Erkrankungen und Besonderheiten zusammengefasst, die entweder durch ein (monogen) oder mehrere untypisch veränderte Gene (polygen) ausgelöst werden und zu bestimmen Erkrankungsdispositionen führen.
lexicalizationdeu: Erbkrankheit
lexicalizationdeu: Genetische Störung
lexicalizationdeu: genetische Krankheit
lexicalizationdeu: Gendefekt
Basque
lexicalizationeus: Gaixotasun genetikoak
Persian
has glossfas: بیماری‌های ژنتیک شامل بیماری هایی می‌باشد که در اثر نارسایی یا جهش در ژن ها یا ماده ژنتیک انسان ایجاد می‌شود.
lexicalizationfas: بیماری‌های ژنتیکی
lexicalizationfas: بیماری‌های ژنتیک
Finnish
has glossfin: Perinnölliset sairaudet ovat virheellisten geenien aiheuttamia sairauksia. Niissä sairastunut on saanut taudin aiheuttavan mutatoituneen alleelin ainakin toiselta vanhemmistaan. Perinnölliset sairaudet voidaan jakaa kahteen päätyyppiin, monogeenisiin, eli yhdestä geenistä johtuviin, ja polygeenisiin, eli useista geeneistä johtuviin. Yleensä perinnöllisistä sairauksista puhuttaessa tarkoitetaan lähinnä monogeenisiä sairauksia, joita tunnetaan yli 5 000. Polygeeniset sairaudet ovat lukumäärällisesti harvinaisempia, mutta niitä esiintyy useammilla ihmisillä, ja ne ovatkin kansanterveydellisesti tärkeämpiä kuin monogeneettiset sairaudet.
lexicalizationfin: Perinnöllinen sairaus
lexicalizationfin: Perinnölliset sairaudet
French
has glossfra: Les maladies génétiques sont des maladies dues à une ou plusieurs anomalies sur un ou plusieurs chromosomes qui sont transmises à la descendance et qui entrainent un défaut de fonctionnement de cellules précises de lorganisme. Les cellules biologiques fabriquent des protéines. Lactivité et la structure de chaque protéine est déterminée par linformation génétique contenue dans un gène. Si le gène est altéré, il entraîne la cellule dans un dysfonctionnement, qui peut se réveler, à tout âge de la vie, avec lexpression d'une maladie.
lexicalizationfra: Maladie genetique
lexicalizationfra: Maladie génétique
Hebrew
has glossheb: פגם גנטי הוא מצב של לקות, מחלה או נשאות של לקות או מחלה הנגרם - לפחות בחלקו - כתוצאה מליקוי בחומר התורשתי של הגוף.
lexicalizationheb: פגם גנטי
Hungarian
has glosshun: A genetikai rendellenességet vagy genetikai betegséget egy vagy több gén abnormális kifejeződése okozza, mely klinikai fenotípusban jelenik meg. Egy genetikai defektusnak számos oka lehet:
lexicalizationhun: Genetikai betegségek
lexicalizationhun: genetikai betegség
Indonesian
has glossind: Penyakit genetik atau kelainan genetik adalah sebuah kondisi yang disebabkan oleh kelainan oleh satu atau lebih gen yang menyebabkan sebuah kondisi fenotipe klinis. Beberapa penyebab penyakit genetik antara lain: * Ketidaknormalan jumlah kromosom seperti dalam sindrom Down (adanya ekstra kromosom 21) dan sindrom Klinefelter (laki-laki dengan 2 kromosom X). * Mutasi gen berulang yang dapat menyebabkan sindrom X rapuh atau penyakit Huntington. * Gen rusak yang diturunkan dari orang tua. Dalam kasus ini, penyakit genetik juga dikenal dengan istilah penyakit keturunan. Kondisi ini terjadi ketika individu lahir dari dua individu sehat pembawa gen rusak tersebut, tetapi dapat juga terjadi ketika gen yang rusak tersebut merupakan gen yang dominan.
lexicalizationind: penyakit genetik
Italian
has glossita: Una malattia genetica (o malattia ereditaria) è una patologia la cui causa è insita nel genoma dellindividuo; può essere dovuta alla presenza di uno o più alleli che producono polipeptidi con struttura e funzionalità anomala o alla malregolazione nellespressione di geni "normali".
lexicalizationita: malattia genetica
lexicalizationita: Malattie genetiche
Japanese
has glossjpn: 遺伝子疾患(いでんししっかん、)は、遺伝子の異常が原因になって起きる疾患の総称。
lexicalizationjpn: 遺伝子疾患
Georgian
lexicalizationkat: გენეტიკური დაავადებები
Korean
lexicalizationkor: 유전병
Kurdish
lexicalizationkur: Nexweşiyên genetîk
Latvian
lexicalizationlav: Ģenētiskās slimības
Lithuanian
has glosslit: Genetinė liga – genetinių priežasčių sukeltas (paprastai įgimtas) negalavimas ar susirgimas, dažniausiai paveldimas. Kai kurios genetinės ligos (širdies yda, rachitas ir kt.) yra pagydomos, bet dauguma (autizmas, cerebrinis paralyžius ir kt.) arba niekada nepagydomos, arba išgydomos tik nevisiškai.
lexicalizationlit: Genetiniai sutrikimai
lexicalizationlit: Genetinė liga
Letzeburgesch
lexicalizationltz: Genkrankheeten
Dutch
has glossnld: Een erfelijke aandoening is een ziekte of aandoening die van generatie op generatie kan worden doorgegeven door een afwijking in de genen. Erfelijke aandoeningen zijn een categorie van aangeboren (congenitale) aandoeningen. Congenitale aandoeningen zijn ziekten of afwijkingen die al bemerkbaar zijn bij de geboorte, maar die niet erfelijk hoeven te zijn: ze kunnen ontstaan zijn door een toeval, ongeluk of ziekte van de moeder tijdens de zwangerschap. Ook een genetische aandoening is niet altijd erfelijk in de zin dat men het van zijn ouders krijgt: soms gaat het om een nieuwe mutatie of chromosoomafwijking die de ouders nog niet hadden, soms ook om een afwijking die het krijgen van nageslacht uitsluit. Heel zeldzaam zijn erfelijke aandoeningen die toch niet in de genen lijken te zitten. Meestal valt het begrip erfelijke aandoening echter wel samen met genetische aandoening.
lexicalizationnld: erfelijke aandoening
Polish
has glosspol: Choroby genetyczne (gr. genetes = rodzic, zrodzony) – grupa chorób wywołana mutacjami w obrębie genu lub genów, mających znaczenie dla prawidłowej budowy i czynności organizmu.
lexicalizationpol: Choroba genetyczna
lexicalizationpol: Choroby genetyczne
Portuguese
lexicalizationpor: Deformações genéticas
Moldavian
has glossron: Bolile genetice sunt turburările care apar la organisme după ce a survenit o schimbare în genotipul acestora. Aceste modificaări pot fi fie mutaţii genice, fie dislocaţii cromozomale sau .
lexicalizationron: Boală genetică
lexicalizationron: Boli genetice
Russian
has glossrus: Наследственное заболевание — заболевания, возникновение и развитие которых связано с дефектами в программном аппарате клеток, передаваемыми по наследству через гаметы. Термин употребляется в отношении полиэтиологических заболеваний, в отличие от более узкой группы — генные болезни.
lexicalizationrus: Наследственные болезни
lexicalizationrus: наследственные заболевания
Slovak
lexicalizationslk: Dedičné choroby
Slovenian
lexicalizationslv: Genetske bolezni
Castilian
has glossspa: Un trastorno o desórden genético es una condición patológica causada por una alteración del genoma. Un transtorno genético puede ser hereditario o no; si el gen alterado está presente en las células germinales (óvulos y espermatozoides) será hereditario (pasará de generación en generación); si afecta a las células somáticas, no.
lexicalizationspa: Enfermedad genetica
lexicalizationspa: Enfermedad genética
lexicalizationspa: Enfermedades genéticas
Serbian
has glosssrp: Наследне болести су обољења изазвана променом наследне основе. Најгрубље се могу поделити у три основне групе:
lexicalizationsrp: Наследне болести
Sundanese
has glosssun: Cacad genetik nujul ka kaayaan balukar ayana abnormalitas dina gén atawa kromosom. Béda ti sababaraha kasakit kayaning kangker anu alatan abnormalitas genetik dadakan di sababaraha sél dina hiji mangsa hirup, istilah "kasakit genetik" mah ilaharna nujul ka kasakit anu aya dina sél-sél sakujur awak anu dibawa ti mimiti konsépsi. Cacad genetik aya nu dibalukarkeun ku abnormalitas kromosom alatan kasalahan dina méiosis, prosés anu ngahasilkeun sél réproduktif kayaning spérma jeung endog. Contona, nyaéta sindrom Down (kromosom 21 leuwih), sindrom Turner (45X0), jeung sindrom Klinefelter (lalaki nu boga dua kromosom X). Parobahan genetik lianna bisa lumangsung nalika produksi germ cells ku kolot. Rujukan *Wikipédia édisi basa Inggris. . Dicutat 2007-09-12.
lexicalizationsun: Cacad genetik
Swedish
has glossswe: En genetisk avvikelse är en avvikelse eller fysiologisk funktionsbrist som direkt orsakas av egenskaper hos arvsmassan, lagrad i kromosomerna.
lexicalizationswe: Genetisk sjukdom
lexicalizationswe: Genetiska sjukdomar
Tamil
has glosstam: மரபு அணு கோளாறுகள் (genetic disorders) என்பது மரபணு, மற்றும் குரோமசோன்களில் ஏற்படும் குறைபாடுகளைக் குறிக்கும்.
lexicalizationtam: மரபணு கோளாறு
Thai
lexicalizationtha: โรคทางพันธุกรรม
Turkish
has glosstur: Genetik bozukluk, genlerde ve kromozomlarda görülen anomaliler sonucu ortaya çıkan durumdur. Kanser gibi bazı hastalıklar yaşam sırasında edinilen ve bazı hücrelerde görülen genetik anomaliler nedeniyle olsa da "genetik hastalık" terimi genellikle vücuttaki tüm hücrelerde bulunan ve döllenmeden beri varolan hastalıklar için kullanılır. Bazı genetik bozukluklar, sperm ve yumurtalar gibi üreme hücrelerini oluşturan mayoz bölünme sırasında oluşan kromozom anomalileri nedeniyle ortaya çıkar. Bunlara örnek olarak Down sendromu (fazla kromozom 21), Turner sendromu (45X0) ve Klinefelter sendromu (2 X kromozomlu erkek) sayılabilir. Diğer genetik değişiklikler ebeveynler tarafınfan tohum hücrelerin oluşturulması sırasında ortaya çıkabilir. Bunlara bir örnek frajil X sendromu ya da Huntington hastalığına neden olabilen üçlü yayılma tekrar mutasyonudur. Hatalı genler ebeveynlerden olduğu gibi alınmış da olabilir. Bu genellikle sağlıklı ama resesif gen taşıyan iki kişinin üremesi ya da hatalı genin dominant olması sonucunda olabilir.
lexicalizationtur: genetik bozukluk
lexicalizationtur: Genetik düzensizlikler
lexicalizationtur: Genetik hastalıkları
lexicalizationtur: Genetik hastalıklar
Ukrainian
has glossukr: Генетичні хвороби — порушення нормальної роботи організму через порушення послідовності генів або структури хромосом. Тоді як деякі хвороби, наприклад рак, виникають через генетичні порушення, придбані кількома клітинами протягом життя, термін «генетична хвороба» зазвичай посилається на наявність хвороб у всіх клітинах тіла і присутніх з моменту зачаття. Деякі генетичні хвороби викликаються хромосомними порушеннями, що виникають через помилки процесу мейозу між генеративними клітинами — спермою і якцеклітиною. Приклади таких генетичних хвороб включають синдром Дауна (додаткова хромосома 21), синдром Тюрнера (45X0) і синдром Кляйнфелтера (чоловік з 2 X-хромосомами). Інші генетичні зміни можуть відбуватися протягом формування генеративних глітин одним з батьків. Один приклад — мутації тріплетного повторення, які можуть викликати fragile X синдром та хворобу Хантінгтона.
lexicalizationukr: Генетичні захворювання
lexicalizationukr: Генетичні хвороби
Urdu
lexicalizationurd: وراثتی امراض
Vietnamese
has glossvie: Bệnh di truyền là những bệnh do cha mẹ truyền cho con qua tế bào sinh dục (trứng hoặc tinh trùng). Vì vậy mầm bệnh có từ trong hợp tử (phôi), từ điểm khởi thủy của sự sống trong ổ tử cung. Trên nhiễm sắc thể của tinh trùng hay trứng đã có sẵn các gen bệnh hoặc cũng có thể do sai lệch bất thường của nhiễm sắc thể. Có thể phân loại bệnh di truyền theo chức năng các sản phẩm của gen bị bệnh: bệnh của phân tử không phải enzim, bệnh lí của phân tử enzim gây các bệnh về rối loạn chuyển hoá axít amin, lipit, gluxit... Cũng cần phân biệt các bệnh di truyền với các bệnh bẩm sinh. Tham khảo
lexicalizationvie: Bất thường di truyền
lexicalizationvie: bệnh di truyền
Chinese
has glosszho: 所謂的遺傳性疾病,是指遺傳因素佔主要发病原因某些疾病。依據造成遺傳性疾病的原因又可以將其區分成:單一基因缺陷的遺傳疾病、染色體變異所引起的遺傳疾病及由多重基因共同影響所造成的遺傳疾病及粒線體基因的變異所引起的疾病。其中因單一基因缺陷而引起的遺傳疾病又稱為孟德爾型病症。
lexicalizationzho: 遗传病
lexicalizationzho: 遺傳性疾病
Links
similare/Genetic disorder
Media
media:imgAutodominant 01.png
media:imgAutorecessive 01.png
media:imgHutchinson-Gilford Progeria Syndrome.png
media:imgPolydactyly 01 Rhand AP.jpg
media:imgRat diabetic.jpg
media:imgSicklecells.jpg
media:imgTranslocation-Robertsonian.PNG
media:imgX-chromosomal-dominant-Mutter.png
media:imgX-chromosomal-dominant-Vater.png
media:imgX-chromosomal-rezessive-Mutter.png
media:imgX-chromosomal-rezessive-Vater.png
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