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Indian Genetic Disease Database (IGDD) is the first patient-based genetic disease database in India. It is developed and maintained at Indian Institute of Chemical Biology (IICB), a unit of the Council of Scientific and Industrial Research. The first version of the database was published online.
Harris platelet syndrome was identified among healthy blood donors in the north-eastern part of the Indian subcontinent, characterized by absent bleeding symptoms, mild to severe thrombocytopenia (platelets rarely < 50 × 10 9 /L) with giant platelets (Mean platelet volume 10fL) and normal platelet aggregation studies with absent MYH9 mutation.
Condition name ICD-10 coding number Diseases Database coding number Medical Subject Headings Iron-deficiency anemia: D50: 6947: Iron-deficiency anemia (or iron deficiency anaemia) is a common anemia that occurs when iron loss (often from intestinal bleeding or menses) occurs, and/or the dietary intake or absorption of iron is insufficient.
Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation. [1]Normally when a vascular injury occurs (i.e., a cut, scrape or other injury that causes bleeding), platelets are activated and phosphatidylserine (PS) in the inner leaflet of the platelet membrane is transported to the outer leaflet of the platelet membrane ...
The National Organization for Rare Disorders (NORD) was established in 1983 by individuals and families with rare diseases. [39] [40]EveryLife Foundation for Rare Diseases was founded in 2009 and is a nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable ...
Haemophilia C is an autosomal genetic disorder involving a lack of functional clotting Factor XI. Haemophilia C is not completely recessive, as heterozygous individuals also show increased bleeding. [40] The type of haemophilia known as parahaemophilia is a mild and rare form and is due to a deficiency in factor V.
Hemophilia and other bleeding disorders exemplify these types of diseases, as there remains significant need for new treatment options," said Akshay Vaishnaw, M.D., Ph.D., Executive Vice President ...
Bleeding episodes in most cases of this disorder are mild and commonly involve easy bruising and menorrhagia. Less common manifestations of bleeding may be severe or even life-threatening; these include excessive bleeding after tooth extraction, surgery, vaginal birth, and miscarriage.
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