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  2. Hereditary haemochromatosis - Wikipedia

    en.wikipedia.org/wiki/Hereditary_haemochromatosis

    Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...

  3. Zellweger spectrum disorders - Wikipedia

    en.wikipedia.org/wiki/Zellweger_spectrum_disorders

    Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...

  4. Zellweger syndrome - Wikipedia

    en.wikipedia.org/wiki/Zellweger_syndrome

    Zellweger syndrome can also affect the function of many other organ systems. Patients can show craniofacial abnormalities (such as a high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanelle), hepatomegaly (enlarged liver), chondrodysplasia punctata (punctate calcification of the cartilage in ...

  5. Glucose-6-phosphate dehydrogenase deficiency - Wikipedia

    en.wikipedia.org/wiki/Glucose-6-phosphate_de...

    Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...

  6. Vital signs - Wikipedia

    en.wikipedia.org/wiki/Vital_signs

    Vital signs (also known as vitals) are a group of the four to six most crucial medical signs that indicate the status of the body's vital (life-sustaining) functions. These measurements are taken to help assess the general physical health of a person, give clues to possible diseases, and show progress toward recovery.

  7. Signs and symptoms - Wikipedia

    en.wikipedia.org/wiki/Signs_and_symptoms

    A medical sign is an objective observable indication of a disease, injury, or medical condition that may be detected during a physical examination. [7] These signs may be visible, such as a rash or bruise, or otherwise detectable such as by using a stethoscope or taking blood pressure. Medical signs, along with symptoms, help in forming a ...

  8. Familial aortic dissection - Wikipedia

    en.wikipedia.org/wiki/Familial_aortic_dissection

    Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch, ascending or descending portions. FAD is thought to be passed down as an autosomal dominant disease and once inherited will result in dissection of the aorta, and dissecting aneurysm of the aorta, or rarely aortic or arterial dilation at a young age.

  9. 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.