Finding commonalities in rare diseases through the undiagnosed diseases network
نویسندگان
چکیده
منابع مشابه
Undiagnosed connective tissue diseases
Among different subgroups of pulmonary arterial hypertension (PAH), those associated with connective tissue diseases (CTDs) have distinct hemodynamic and prognostic features; a correct etiologic diagnosis is thus mandatory.To estimate frequency and prognosis of previously undiagnosed CTDs in a suspect idiopathic (i) PAH cohort.Consecutive patients with PAH confirmed by right heart catheterizati...
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The concept that autoimmune diseases are characterized by shared (common) threads is well illustrated by their propensity to co-associate in a patient or direct relatives, as coexistences or overlaps. Recognized are two major autoimmune clusters, "thyrogastric" (mostly organ-specific) and "lupus-associated" (mostly multisystem). Additionally, some autoimmune diseases distribute within either cl...
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By definition, a rare disease is any condition that affects a small percentage of the population. However, the cutoff number for which a disease is considered as rare varies with different regions. In the United States, the cutoff was fewer than 200,000 people [1] and while in Japan, it was fewer than 50,000 [2]. For Europe, rare diseases are life-threatening or chronically debilitating ones in...
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ژورنال
عنوان ژورنال: Journal of the American Medical Informatics Association
سال: 2021
ISSN: 1067-5027,1527-974X
DOI: 10.1093/jamia/ocab050