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Company ORDR / NORD / Orphanet / / Continent Europe / / Country United States / Italy / / Event Business Partnership / M&A / / Facility National Institute of Health / / IndustryTerm treatment of patients with rare diseases / / MarketIndex Normalized String / / MedicalCondition Conn Syndrome / rare genetic skin disease / ORPHA000016 Blue cone monochromatism CUI1 C0339537 CUI2 C1844778 Blue cone monochromatism Achromatopsia / namely rare disease / European blastomycosis / rare diseases / disease / Levy-Yeboa Syndrome / C0220987 Hereditary / AIDS Cryptococcus infection / European cryptococcosis / C0220987 C0268131 Hereditary / rare disease / Uridine monophosphate synthetase deficiency / Achromatopsia / Isolated growth hormone deficiency / source rare disease / Glycogen storage disease / xeroderma pigmentosum / diseases / disorder / orotic aciduria Orotidylic decarboxylase Hereditary / Busse-Buschke's disease / Infection / Thalassemia / Overall / rare diseases / linked Achromatopsia / Cryptococcosis / Torulosis / orotic deficiency / Systemic cryptococcosis Cryptococcal gastroenteritis Cryptococcosis / extremely rare diseases / relatively common genetic disease / disorders / / Organization National Institute of Health / office of Rare Diseases Research / National Organization of Rare Disorders / National Organization for Rare Disorders / Institut National / European Union / Ministry of Health / / Person Hereditary / Olivier Bodenreider / / Position Director / / Region Southern Italy / Mediterranean / / Technology Ultrasound / / URL http / SocialTag 
LHNCB Medical Informatics Training Program Final Report Title: Analyzing rare diseases terms in biomedical terminologies Mentor: Dr. Olivier Bodenreider Training program: October, 2010 – December, 2010