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  • Diamond-Blackfan Anemia

    Published: 10/06/2017
    Diamond-Blackfan anemia : A genetic condition affecting the bone marrow that leads to anemia (low numbers of red blood cells) and often, birth defects . It affects five to 10 out of every million babi ... Read more
  • Bartsocas-Papas Syndrome

    Published: 9/06/2017
    Bartsocas-Papas syndrome : a congenital genetic disorder resulting in severe deformity of the face and extremities characterized by webbing of the lower extremities. Babies generally die in the womb, ... Read more
  • Small round blue cell tumor

    Published: 3/06/2017
    Small round blue cell tumor: a group of childhood tumors that is characterized by a similar appearance under the microscope. The appearance is that of small, round, primitive cells that stain blue wit ... Read more
  • Hermansky-Pudlak syndrome

    Published: 27/05/2017
    Hermansky-Pudlak syndrome: A group of genetic diseases characterized by a deficiency of pigment in the skin and eye, a bleeding tendency resulting from a platelet storage pool deficiency, and systemic ... Read more
  • Exploding head syndrome

    Published: 20/05/2017
    Exploding head syndrome: an unusual form of parasomnia (type of sleep disturbance) in which a person perceives loud noises (such as a gunshot, explosion, or crash) when awakening or falling asleep. So ... Read more
  • Thoracic outlet syndrome

    Published: 18/05/2017
    Thoracic outlet syndrome: A condition that is due to compromise of blood vessels or nerve fibers between the armpit (axilla) and the base of the neck, because of compression by adjacent tissues. Sympt ... Read more
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