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5 results

  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Achromatopsia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  2. xmlmplus_topics_2025-07-25.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-07-25.xml
    ... rose in full bloom. If you have a color vision defect, you may see these colors differently than most ... p> <p>There are three main kinds of color vision defects. Red-green color vision defects are the most ...
  3. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... cone monochromacy (OMIM 303700 ) XL Similar features to achromatopsia but less severe; reduced visual acuity; nystagmus; myopia; color vision defects; increased sensitivity to light (photophobia) RS1 X-linked ...
  4. Criteria for Determining Disability in Infants and Children: Low Birth Weight: Summary - AHRQ Evidence Report Summaries ... 
    https://www.ncbi.nlm.nih.gov/books/NBK11953
    ... visual acuity tests or presence of strabismus, myopia, color vision defect, or visual field defect) is two-fold greater ...
  5. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... mellitus is less frequent (5%-10%) in BBS. Achromatopsia (ACH) ATF6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR ... adverse metabolic profile of these patients, with secondary prevention therapy required when atheromata are significant. Insulin resistance / ...