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X-LINKED [6 records]
Record 1 - internal organization data 2025-08-26
Record 1, English
Record 1, Subject field(s)
- Visual Disorders
Record 1, Main entry term, English
- X-linked juvenile retinoschisis
1, record 1, English, X%2Dlinked%20juvenile%20retinoschisis
correct, noun
Record 1, Abbreviations, English
- XLRS 2, record 1, English, XLRS
correct, noun
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 CONT
X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. 3, record 1, English, - X%2Dlinked%20juvenile%20retinoschisis
Record number: 1, Textual support number: 1 OBS
Mutations in the RS1 gene cause most cases of X-linked juvenile retinoschisis. The RS1 gene provides instructions for making a protein called retinoschisin, which is found in the retina. 3, record 1, English, - X%2Dlinked%20juvenile%20retinoschisis
Record number: 1, Textual support number: 2 OBS
retinoschisis: Degenerative splitting of the retina into separate layers. 4, record 1, English, - X%2Dlinked%20juvenile%20retinoschisis
Record 1, French
Record 1, Domaine(s)
- Troubles de la vision
Record 1, Main entry term, French
- rétinoschisis juvénile lié à l'X
1, record 1, French, r%C3%A9tinoschisis%20juv%C3%A9nile%20li%C3%A9%20%C3%A0%20l%27X
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Rétinoschisis juvénile lié à l'X. [...] Il s'agit d'une affection génétique rare qui atteint, très généralement, les garçons et les jeunes hommes, et qui entraîne une diminution progressive de l'acuité visuelle. [...] On voit apparaître des formations kystiques dans la rétine, ce qui va entraîner un clivage rétinien à l'origine des altérations anatomiques [...] 1, record 1, French, - r%C3%A9tinoschisis%20juv%C3%A9nile%20li%C3%A9%20%C3%A0%20l%27X
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2014-11-28
Record 2, English
Record 2, Subject field(s)
- Genetics
- Muscles and Tendons
Record 2, Main entry term, English
- X-linked myotubular myopathy
1, record 2, English, X%2Dlinked%20myotubular%20myopathy
correct
Record 2, Abbreviations, English
- XLMTM 1, record 2, English, XLMTM
correct
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A rare genetic neuromuscular disorder that is characterized by muscle weakness that can range from mild to profound. 1, record 2, English, - X%2Dlinked%20myotubular%20myopathy
Record number: 2, Textual support number: 1 OBS
Common symptoms include mild to profound muscle weakness, diminished muscle tone (hypotonia or "floppiness"), feeding difficulties, and potentially severe breathing complications (respiratory distress). Feeding difficulties and respiratory distress develop because of weakness of the muscles that are involved in swallowing and breathing. 1, record 2, English, - X%2Dlinked%20myotubular%20myopathy
Record 2, French
Record 2, Domaine(s)
- Génétique
- Muscles et tendons
Record 2, Main entry term, French
- myopathie myotubulaire liée à l'X
1, record 2, French, myopathie%20myotubulaire%20li%C3%A9e%20%C3%A0%20l%27X
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2011-05-09
Record 3, English
Record 3, Subject field(s)
- Immunology
Record 3, Main entry term, English
- Bruton’s agammaglobulinemia
1, record 3, English, Bruton%26rsquo%3Bs%20agammaglobulinemia
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
- Bruton’s disease 1, record 3, English, Bruton%26rsquo%3Bs%20disease
correct
- XLA 1, record 3, English, XLA
correct
- XLA 1, record 3, English, XLA
- congenital hypogammaglobulinemia 2, record 3, English, congenital%20hypogammaglobulinemia
correct
- Bruton hypogammaglobulinemia 3, record 3, English, Bruton%20hypogammaglobulinemia
correct
- X-linked hypogammaglobulinemia 2, record 3, English, X%2Dlinked%20%20hypogammaglobulinemia
correct
- Bruton type agammaglobulinemia 2, record 3, English, Bruton%20type%20agammaglobulinemia
correct
- X-linked agammaglobulinemia 1, record 3, English, X%2Dlinked%20%20agammaglobulinemia
correct
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
Infantile sex-linked hypogammaglobulinemia. A congenital disorder affecting male infants, in which all classes of immunoglobulins may be deficient, with subnormal plasma concentrations. 2, record 3, English, - Bruton%26rsquo%3Bs%20agammaglobulinemia
Record 3, French
Record 3, Domaine(s)
- Immunologie
Record 3, Main entry term, French
- maladie de Bruton
1, record 3, French, maladie%20de%20Bruton
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- agammaglobulinémie liée au sexe 2, record 3, French, agammaglobulin%C3%A9mie%20li%C3%A9e%20au%20sexe
correct, feminine noun
- agammaglobulinémie liée à l'X 1, record 3, French, agammaglobulin%C3%A9mie%20li%C3%A9e%20%C3%A0%20l%27X
correct, feminine noun
- agammaglobulinémie de Bruton 3, record 3, French, agammaglobulin%C3%A9mie%20de%20Bruton
correct, feminine noun
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Absence de lymphocytes B dans le sang et les organes périphériques et qui touche principalement les garçons. 4, record 3, French, - maladie%20de%20Bruton
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Inmunología
Record 3, Main entry term, Spanish
- agammaglobulinemia congénita
1, record 3, Spanish, agammaglobulinemia%20cong%C3%A9nita
correct, feminine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
- agammaglobulinemia ligada a X 1, record 3, Spanish, agammaglobulinemia%20ligada%20a%20X
correct, feminine noun
- enfermedad de Bruton 1, record 3, Spanish, enfermedad%20de%20Bruton
correct, feminine noun
Record 3, Textual support, Spanish
Record 4 - internal organization data 2000-03-02
Record 4, English
Record 4, Subject field(s)
- Genetics
Record 4, Main entry term, English
- X-linked inheritance
1, record 4, English, X%2Dlinked%20inheritance
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- X-linked heredity 2, record 4, English, X%2Dlinked%20%20heredity
correct
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
The transmission of a phenotype that is determined by a gene located on the X chromosome. 1, record 4, English, - X%2Dlinked%20inheritance
Record 4, French
Record 4, Domaine(s)
- Génétique
Record 4, Main entry term, French
- hérédité liée à l'X
1, record 4, French, h%C3%A9r%C3%A9dit%C3%A9%20li%C3%A9e%20%C3%A0%20l%27X
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Transmission, d'une génération à la suivante, d'un caractère dont le gène correspondant est situé sur le chromosome X. 2, record 4, French, - h%C3%A9r%C3%A9dit%C3%A9%20li%C3%A9e%20%C3%A0%20l%27X
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 1998-07-28
Record 5, English
Record 5, Subject field(s)
- Chemistry
- Plastics Manufacturing
- Analytical Chemistry
Record 5, Main entry term, English
- cross-linked
1, record 5, English, cross%2Dlinked
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
- x-link 2, record 5, English, x%2Dlink
adjective
- x-linked 3, record 5, English, x%2Dlinked
Record 5, Textual support, English
Record number: 5, Textual support number: 1 CONT
"cross-link": to join by cross-links. [Ex.:] cross-linked polymers. 4, record 5, English, - cross%2Dlinked
Record number: 5, Textual support number: 1 OBS
"cross-link": a comparatively short connecting unit (as a chemical bond or a chemically bonded atom or group) between neighboring chains of atoms in a complex chemical molecule (as a polymer). Used especially in relation to thermosetting plastics, vulcanized rubber, and proteins. 4, record 5, English, - cross%2Dlinked
Record 5, French
Record 5, Domaine(s)
- Chimie
- Plasturgie
- Chimie analytique
Record 5, Main entry term, French
- réticulé
1, record 5, French, r%C3%A9ticul%C3%A9
correct, adjective
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, Textual support number: 1 CONT
Les chaînes (ou macromolécules) ne sont pas indépendantes, mais unies les unes aux autres par des liaisons chimiques. Le caoutchouc naturel vulcanisé, les copolymères du styrène et du divinylbenzène, la plupart des phénoplastes et aminoplastes sont des polymères réticulés. 2, record 5, French, - r%C3%A9ticul%C3%A9
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 1993-02-15
Record 6, English
Record 6, Subject field(s)
- Immunology
Record 6, Main entry term, English
- X-linked lymphoproliferative disease
1, record 6, English, X%2Dlinked%20lymphoproliferative%20disease
correct
Record 6, Abbreviations, English
Record 6, Synonyms, English
- X-linked lymphoproliferative syndrome 2, record 6, English, X%2Dlinked%20lymphoproliferative%20syndrome
correct
- X-linked immunodeficiency with undue susceptibility to Epstein-Barr virus 2, record 6, English, X%2Dlinked%20immunodeficiency%20with%20undue%20susceptibility%20to%20Epstein%2DBarr%20virus
- X-linked progressive combined variable immunodeficiency 2, record 6, English, X%2Dlinked%20progressive%20combined%20variable%20immunodeficiency
Record 6, Textual support, English
Record number: 6, Textual support number: 1 DEF
X-linked immunodeficiency with undue susceptibility to Epstein-Barr virus. 2, record 6, English, - X%2Dlinked%20lymphoproliferative%20disease
Record number: 6, Textual support number: 2 DEF
A rare disease of apparently immunologically normal males who, upon first infection with Epstein-Barr virus, develop fulminating infectious mononucleosis, agammaglobulinemia, or B-cell lymphoma, or bone-marrow aplasia. It shows the inheritance characteristic of X chromosome genetic defects. 2, record 6, English, - X%2Dlinked%20lymphoproliferative%20disease
Record 6, French
Record 6, Domaine(s)
- Immunologie
Record 6, Main entry term, French
- syndrome lymphoprolifératif relié au chromosome X
1, record 6, French, syndrome%20lymphoprolif%C3%A9ratif%20reli%C3%A9%20au%20chromosome%20X
proposal, masculine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
- déficit immunitaire avec réponse anormale vis-à-vis du virus d'Epstein-Barr 2, record 6, French, d%C3%A9ficit%20immunitaire%20avec%20r%C3%A9ponse%20anormale%20vis%2D%C3%A0%2Dvis%20du%20virus%20d%27Epstein%2DBarr
masculine noun
Record 6, Textual support, French
Record number: 6, Textual support number: 1 CONT
Déficit immunitaire avec réponse anormale vis-à-vis du virus d'Epstein-Barr (...) Une susceptibilité familiale de transmission récessive liée au sexe a été décrite pour le virus EB responsable de mononucléose sévère, de sarcome ou d'hypogammaglobulinémie chez les garçons d'une même famille. 2, record 6, French, - syndrome%20lymphoprolif%C3%A9ratif%20reli%C3%A9%20au%20chromosome%20X
Record 6, Spanish
Record 6, Textual support, Spanish
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