Frequently Asked Questions

RareConnect is a community portal for the rare disease ecosystem. We provide comprehensive information about over 26,000 rare diseases, a directory of Patient Advocacy Groups (PAGs), and tools for community contributions. Our mission is to connect patients, caregivers, and advocacy groups with reliable rare disease information.

Our disease database is powered by the MONDO Disease Ontology, a comprehensive resource that integrates disease definitions from multiple sources. Gene associations come from Monarch Initiative, MyGene.info, and OpenTargets.

Yes, RareConnect is completely free for patients, caregivers, researchers, and Patient Advocacy Groups. Our goal is to make rare disease information accessible to everyone.

You can use the search bar on our homepage or the Disease Directory to find diseases by name, synonym, or associated gene. Our search supports typo tolerance and suggests results as you type.

Each disease page includes:

• Disease definition and synonyms
• Associated genes
• Patient-friendly explanations (overview, symptoms, causes, diagnosis, treatment, prognosis, research)
• Links to external resources (OMIM, Orphanet, etc.)
• Related Patient Advocacy Groups

We are actively working to add patient-friendly summaries to all 26,000+ diseases. This content is generated by AI and reviewed by our community. You can help by contributing to disease pages that need content.

Yes, each disease page has a PDF export option that allows you to download a comprehensive summary of the disease information.

Registered users can suggest edits to disease pages. Simply navigate to a disease page, click the "Edit" button, and submit your contribution with sources. All contributions go through our review process before being published.

Contributions are first reviewed by our AI moderation system, which checks for accuracy, clarity, appropriateness, and source quality. Contributions that score above our threshold are auto-approved, while others are flagged for human review by our admin team.

Good contributions:

• Are accurate and based on reliable sources
• Use clear, patient-friendly language
• Include citations to medical literature or authoritative sources
• Focus on factual information without promotional content

Yes, each disease page has a version history that shows all approved changes, who made them, and when. You can compare different versions and see how the content has evolved.

A Patient Advocacy Group (PAG) is an organization that supports patients and families affected by a specific disease or group of diseases. PAGs provide resources, support networks, and advocacy for their communities.

You can browse our PAG Directory or search for PAGs by disease name or country. Each disease page also shows related PAGs if any are registered.

To register your Patient Advocacy Group:

1. Create an account on RareConnect
2. Go to the PAG Registration page
3. Complete the registration form with your organization details
4. Submit for verification

Our team will review your application and contact you if additional information is needed.

Upon verification, each PAG receives a unique RDCP (Rare Disease Community Portal) identifier in the format RDCP:PAG0000001. This persistent identifier helps ensure your organization can be consistently referenced across platforms.

Verification typically takes 5-10 business days. We review each application to ensure the organization is a legitimate patient advocacy group. You can track your application status on your dashboard.

Click the "Sign Up" button in the top navigation bar and follow the registration process. You'll need to provide your email address and create a password.

On the sign-in page, click "Forgot password?" and enter your email address. We will send you instructions to reset your password.

If you find incorrect information on a disease page, you can either submit a correction through the contribution system (if you have an account) or contact us at support@rareconnect.org.

For general inquiries and support, please visit our Contact page or email us at support@rareconnect.org.