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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

    Examples of this type of disorder are Huntington's disease, [21]: 58 neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria. Birth ...

  4. List of congenital disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_congenital_disorders

    Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis

  5. Mendelian traits in humans - Wikipedia

    en.wikipedia.org/wiki/Mendelian_traits_in_humans

    Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]

  6. List of syndromes - Wikipedia

    en.wikipedia.org/wiki/List_of_syndromes

    Legg–Calvé–Perthes disease; Legius syndrome; Leiner's disease; Lelis syndrome; Lemierre's syndrome; Lennox–Gastaut syndrome; Lenz microphthalmia syndrome; Lenz–Majewski syndrome; Leriche's syndrome; Leschke syndrome; Lesch–Nyhan syndrome; Lethal congenital contracture syndrome; Lethal white syndrome

  7. Category:Autosomal dominant disorders - Wikipedia

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

    Albright's hereditary osteodystrophy; Ankylosing vertebral hyperostosis with tylosis; Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly; Aphalangy-syndactyly-microcephaly syndrome; Arakawa's syndrome II; Aromatase excess syndrome; Autosomal dominant cerebellar ataxia; Autosomal dominant Charcot–Marie–Tooth disease type 2 ...

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