Search results

Jump to navigation Jump to search
  • '''Piebaldism''' (pronunciation: /ˈpaɪˌbɔːldɪzəm/) is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white fore ...t. Mutations in the KIT gene prevent these melanocytes from developing and functioning normally.
    2 KB (250 words) - 04:37, 6 February 2024
  • '''CADASIL''' (pronounced kuh-DAH-sil), an acronym for '''Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy''', is a gen ...ory, thinking and social abilities severely enough to interfere with daily functioning.
    2 KB (214 words) - 23:00, 4 February 2024
  • ...the DNA sequence of a single gene, which can result in an abnormal or non-functioning protein being produced. Monogenic disorders can be classified into three main types: [[autosomal dominant]], [[autosomal recessive]], and [[X-linked]].
    2 KB (284 words) - 17:39, 10 February 2024
  • ...of the cone cells. These mutations are typically inherited in an autosomal dominant or autosomal recessive manner. * [[Autosomal Dominant]]
    2 KB (290 words) - 00:26, 9 February 2024
  • * [[Autosomal dominant]] - a term describing a gene on any chromosome other than the sex chromosom * [[Brain death]] - the condition in which the brain stops functioning while the heart continues to beat
    220 KB (35,558 words) - 20:15, 31 December 2022
  • ...at rest, representing the minimum amount of energy needed to keep the body functioning, including breathing and keeping warm. ...s ability to generate and get rid of heat, a vital parameter for metabolic functioning.
    171 KB (26,136 words) - 02:28, 15 February 2024