Elements of Morphology: Human Malformation Terminology
Defines uniform and internationally accepted terms to describe the human phenotype for the craniofacies in general, the major components of the face, and the hands and feet.
Defines uniform and internationally accepted terms to describe the human phenotype for the craniofacies in general, the major components of the face, and the hands and feet.
Clinical Trials is a database of privately and publicly funded clinical trials conducted around the world.
The purpose of this website is to provide a tool that is helpful for the clinician in diagnosing syndromic disorders across varied populations.
The ACMG ACT Sheets and their accompanying algorithms are great resources for health care providers looking for information on genetic conditions (identified through newborn screening and beyond) to help inform clinical decision making.
The purpose of NORD Online Physician Guides is to provide a resource for clinicians about specific rare disorders to facilitate the timely diagnosis and treatment of their patients. Family physicians, pediatricians, and other primary care providers play an important role in early identification and long-term management of patients with rare diseases. It is important for …
CME and CNE modules on the clinical applications of genetic testing Precision Medicine for Your Practice is an educational program developed by Scripps Research Translational Institute (Scripps), the American Medical Association (AMA), and The Jackson Laboratory (JAX) to help clinicians answer the following: How can genetics be used in clinic with my patients? Can genetic information really improve outcomes? …
A patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 300 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
Unique provides support, information and networking to families affected by rare chromosome and gene disorders. Patient guides available in English and Spanish.