About

RareSeen (罕见病知识库, rareseen.org) takes rare disease information that is scattered across Orphanet, HPO, ClinicalTrials.gov, China's National Reimbursement Drug List and Europe PMC, brings it together in Chinese, and cites the source and counting rule of every item. It is maintained independently by one person. It is not an institution.

The name comes from the Chinese word for "rare", 罕见: 罕 means few and 见 means seen, which together read as rarely seen. RareSeen (rareseen.org) is not affiliated with the RareSeen wallpaper apps or rareseen.com, an unrelated company that shares the name.

The problem it addresses

Public information on rare diseases is fragmented. Disease definitions are in Orphanet, phenotype terms in HPO, clinical trials in ClinicalTrials.gov, drugs and reimbursement in a national drug list published as a PDF of several hundred pages, and recent research in Europe PMC. These sources are independent, use identifier systems that do not connect, and are almost entirely in English.

Someone in China who has just received a diagnosis and wants to know what the disease is, whether a drug exists, whether a trial is recruiting and what was published this year has to learn five or six databases, after first getting past the language barrier.

This site connects those sources, presents them in Chinese and labels each item with where it came from. It produces no new conclusions. It only makes information that is already public easier to find.

Who it is for

Patients and families

You can look up the international identifier for a disease, its causative genes, its phenotypes in Chinese, trials recruiting in China, drugs named for the disease in the reimbursement list, and research from the last two years. The site cannot tell you how to treat a disease and does not replace a doctor. The best use is to take the trial numbers, drug names and papers you find to your own physician.

Clinicians and genetic counsellors

Every disease page states its data sources and their version, so it can be cited or passed on to families. Known defects in the data are listed on the sources page, including mistranslations in Orphanet's Chinese release and English spelling errors in the official catalog. Corrections are the most useful help the project can receive.

Patient organizations

If you run a community for a particular disease, a structured page for it already exists here and is free to use. Custom fields, data exports and listing your organization can all be discussed. The aim is not to build another community but to give existing ones a useful tool.

Researchers and developers

The mapping from the 207 diseases in China's National Rare Disease Catalogs to ORPHA, MONDO, OMIM and ICD identifiers is published as TSV and JSON on the catalog page. Upstream data is under CC BY 4.0, and this project's own curation is released under the same license. Please attribute as described on the sources page.

What it is not

Not medical advice, not a diagnostic tool, and no consultation of any kind.
No selling, sourcing or brokering of any drug, and no recipes for self-made drugs.
No fundraising and no personal appeals.
No patient data. The site has no accounts, no forms and no tracking.
Not complete. The sources page lists what has been done, what has not, and what was attempted without success.

Why it is anonymous, and how to check it anyway

The site is signed with a project name rather than a personal name because what it asks you to trust is data you can verify, not a person. Nothing here depends on the maintainer's authority:

Every figure states how it was counted and where it came from.
Every disease page links to the corresponding Orphanet, OMIM, MONDO and GARD records.
Every trial carries its NCT number, and every literature item its PMID or DOI.
The catalog mapping can be downloaded in full and checked row by row, including the rationale for each manually curated entry.

The site carries no advertising and has nothing to sell.

Contact

These addresses handle three things: data corrections, collaboration, and questions about using or citing the data. Messages in English or Chinese are both fine.

They do not handle questions about individual medical conditions. The site gives no medical advice and cannot assess any specific case. Please do not send medical records, genetic test reports or any personal information; the project does not collect or keep patient data and will delete it on receipt.

Corrections: (address shown when the page loads) wrong data, a mistranslation, a dead link
Collaboration: (address shown when the page loads) patient organizations, clinicians, researchers
Anything else: (address shown when the page loads) data use and citation, and whatever does not fit above

Addresses are assembled in your browser and shown when the page loads, to keep them away from address harvesters.