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  2. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  3. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    OMIM — Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders; Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC's National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project ...

  4. Category:Rare genetic syndromes - Wikipedia

    en.wikipedia.org/wiki/Category:Rare_genetic...

    Pages in category "Rare genetic syndromes" The following 176 pages are in this category, out of 176 total. ... GRIN2B-related neurodevelopmental disorder;

  5. Category:Rare diseases - Wikipedia

    en.wikipedia.org/wiki/Category:Rare_diseases

    CDKL5 deficiency disorder; Cenani–Lenz syndactylism; Center of expertise for rare diseases; Cerebral creatine deficiency; Cerebroretinal microangiopathy with calcifications and cysts; Cerebrotendinous xanthomatosis; Cherubism; Childhood dementia; Childhood granulomatous periorificial dermatitis; CHIME syndrome; Chorea-acanthocytosis ...

  6. Category:Rare syndromes - Wikipedia

    en.wikipedia.org/wiki/Category:Rare_syndromes

    Rare genetic syndromes (1 C, 176 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" The following 200 pages are in this category, out of ...

  7. Rare disease - Wikipedia

    en.wikipedia.org/wiki/Rare_disease

    Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]

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