RareGuru Library

The RareGuru disease database is regularly reviewed and updated using data generously provided by the following organizations:

• GARD, the United States Genetic and Rare Disease Information Center.

• Orphanet, an international consortium of over 40 countries, Orphanet is a unique resource that gathers and improves knowledge on rare diseases to improve the diagnosis, care, and treatment of patients with rare diseases.

The RareGuru Library includes a list of rare diseases, symptoms, treatments and other terms to help RareGuru users find reliable information on specific rare diseases, disorders, and syndromes.

The RareGuru App disease database is the App version of the RareGuru Library, used by RareGuru to make connections between App users who share the same diseases, disorders, or syndromes.

1. A symptom is a physical or mental feature which is regarded as indicating a condition of disease, disorder, or syndrome particularly such a feature that is apparent to the patient. For example, chest pain is a symptom.
2. A syndrome is a collection or set of signs and symptoms that characterize or suggest a particular disease.
3. A disease is a pathophysiological response to external or internal factors.
4. A disorder is a disruption of the disease to the normal or regular functions in the body or a part of the body.

Please email RareGuru and provide more information about your rare disease so the RareGuru team can review and add it to our database.

There are more than 6,500 rare diseases, disorders and syndromes collectively called “diseases” in the RareGuru Library and App Database and approximately 1,000 diseases that are not considered rare, including:

1. Genetic conditions that are not rare (Example: Down syndrome).
2. Common conditions when genetic factors increase risk to develop the condition (Example: celiac disease).
3. Conditions or terms for which we receive numerous questions with answers that are hard to find elsewhere (Example: diffuse idiopathic skeletal hyperostosis or DISH).