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  • == Inherited Disorder == An '''Inherited Disorder''' (pronunciation: /ɪnˈhɛrɪtɪd dɪsˈɔːdər/) is a type of
    2 KB (266 words) - 22:30, 14 February 2024
  • ...uses on the diagnosis and management of genetic disorders and the study of inherited traits. ...uses on the diagnosis and management of genetic disorders and the study of inherited traits.
    406 bytes (56 words) - 23:47, 30 December 2022
  • ...tion: glai-koh-jen stor-ij dih-zeez'') is a group of inherited [[metabolic disorders]] that affect the processing of [[glycogen]]. Glycogen is a complex sugar t * [[Metabolic disorders]]
    2 KB (207 words) - 02:58, 12 February 2024
  • ...ield of [[medicine]] to refer to a [[disease]] or [[disorder]] that is not inherited genetically, but develops after birth due to environmental factors or expos ...e that is obtained or developed after birth, rather than being genetically inherited.
    2 KB (224 words) - 23:16, 9 February 2024
  • ...ooth disease''' (pronounced shar-ko-mah-ree-tooth) is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain a Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The diseas
    2 KB (215 words) - 14:46, 11 February 2024
  • ...n [[pediatrician]] and [[geneticist]] known for his work in the field of [[inherited metabolic diseases]]. ...Strasburg, Pennsylvania, which provides treatment and research for genetic disorders prevalent in the Amish and Mennonite communities.
    2 KB (259 words) - 19:25, 11 February 2024
  • ...r mutations in the DNA sequence of a single [[gene]]. The mutations can be inherited from one or both parents, or they can occur spontaneously at the time of co The term "single gene disorder" is derived from the fact that these disorders are caused by defects in a single gene. The term "monogenic" is derived fro
    2 KB (262 words) - 21:44, 11 February 2024
  • ...a consultant regarding laboratory diagnosis of a broad range of inherited disorders. ...a consultant regarding laboratory diagnosis of a broad range of inherited disorders. {{medicine}} [[Category:Medical definitions]]
    700 bytes (88 words) - 08:25, 2 January 2023
  • ...a consultant regarding laboratory diagnosis of a broad range of inherited disorders. ...a consultant regarding laboratory diagnosis of a broad range of inherited disorders. {{medicine}} [[Category:Medical definitions]]
    690 bytes (88 words) - 08:28, 2 January 2023
  • |Short definition=DNA repair disorder - type of inherited disease caused by mutations (changes) in certain genes involved in DNA repa ...haracterized by problems with growth and development, premature aging, and disorders of the skin and nervous system. A DNA repair disorder can increase a person
    918 bytes (137 words) - 08:37, 11 January 2023
  • === Disorders === ...sociated with a group of conditions known as MYH9-related disorders. These disorders are characterized by large platelets and, often, hearing loss, cataracts, a
    2 KB (257 words) - 04:25, 14 February 2024
  • ...utations (changes) in the RECQL4 gene have been found in certain inherited disorders, including Rothmund-Thomson Syndrome (RTS).  ...utations (changes) in the RECQL4 gene have been found in certain inherited disorders, including Rothmund-Thomson Syndrome (RTS). People with RTS have an increas
    851 bytes (127 words) - 02:52, 8 January 2023
  • |Short definition=PTEN hamartoma tumor syndrome - group of inherited disorders caused by mutations (changes) in the PTEN gene. In people with PTEN hamarto ...han average, abnormal skin changes, blood vessel problems, autism spectrum disorders, and learning and developmental delays. People with PTEN hamartoma tumor sy
    1 KB (180 words) - 17:06, 13 January 2023
  • ...·age dis·or·der'') is a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. The term "lysosomal storage ...ic materials in the body's cells as a result of enzyme deficiencies. These disorders can affect multiple organs, including the skeleton, brain, skin, heart, and
    2 KB (277 words) - 04:20, 12 February 2024
  • ...t inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually begins at birth.  ...t inner lining of some organs and body cavities). Epidermolysis bullosa is inherited and usually begins at birth. Patients with epidermolysis bullosa may be at
    884 bytes (118 words) - 19:08, 11 January 2023
  • ...is can lead to vision loss and potentially blindness. The condition can be inherited or acquired due to aging or other factors. * [[Retinitis Pigmentosa|Retinitis pigmentosa]]: A group of inherited diseases causing retinal degeneration.
    2 KB (227 words) - 23:30, 14 February 2024
  • ==Neuromuscular Disorders== '''Neuromuscular disorders''' (/ˌnʊəroʊˈmʌskjʊlər/; from Greek ''neuro'' meaning "nerve" and '
    2 KB (207 words) - 14:43, 11 February 2024
  • '''Blood Clotting Disorders''' ...a group of conditions that cause abnormal clotting of the [[blood]]. These disorders can lead to excessive bleeding or clotting, both of which can be life-threa
    2 KB (264 words) - 22:02, 13 February 2024
  • == Inherited Patterned Lentiginosis == '''Inherited patterned lentiginosis''' (pronunciation: in-her-it-ed pat-ern-ed len-ti-gi
    2 KB (305 words) - 06:20, 12 February 2024
  • ...s excessive bleeding when you are injured. Thus, individuals with bleeding disorders face a higher risk of bleeding excessively and longer after an injury or su == Types of Bleeding Disorders ==
    2 KB (310 words) - 23:25, 9 February 2024

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