Glanzmann thrombasthenia (GT) is a bleeding disorder caused by impaired platelet function. It’s characterized by lifelong episodes of bleeding, often presenting as a spontaneous bleed after a minor trauma...
MODY Diabetes
Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover in young adults. MODY is mostly...
Chronic granulomatous disease (CGD) is a rare genetic condition where white blood cells, known as phagocytes, cannot effectively destroy certain bacteria and fungi. This...
Pseudohypoparathyroidism (PHP) is a rare hereditary disorder characterized by the resistance or insensitivity of target organs to parathyroid hormone (PTH). The parathyroid glands are...
What is Prader-Willi Syndrome?
Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder affecting the metabolic, endocrine, and neurologic systems due to abnormalities on chromosome...