Sources, licenses and methods
This site does not produce primary medical data. It connects existing sources, adds Chinese labels and structures the result. Each source, its license and its version status are listed below.
| Source | Used for | License | Status |
|---|---|---|---|
| Orphanet / Orphadata | Disease entities, English names and synonyms, definitions, causative genes, phenotype associations, epidemiology, cross-references | CC BY 4.0 | Current release |
| Orphanet Chinese release (zh_product1) | Chinese disease names and synonyms | CC BY 4.0 | Frozen at 2020-06-01 |
| Human Phenotype Ontology | Phenotype terms | HPO license (attribution, no modification) | Current release |
| HPO Simplified Chinese translation | Chinese phenotype labels, originating from the work of CHPO (the Chinese Human Phenotype Ontology Consortium) | HPO license | Current release |
| MONDO | Cross-database disease identifiers | CC BY 4.0 | Current release |
| China's First National Rare Disease Catalog | Catalog numbers and Chinese disease names (121 diseases) | Government public document | 国卫医发〔2018〕10号 |
| China's Second National Rare Disease Catalog | Catalog numbers and Chinese disease names (86 diseases) | Government public document | 国卫医政发〔2023〕26号 |
| ClinicalTrials.gov | Trials with a study site in mainland China (all statuses), and recruiting trials outside China (v2 API) | US government public data | Fetched again on every build |
| Europe PMC | Research literature from the last two years, per disease | Public API | Fetched again on every build |
| European Medicines Agency public data | Medicines authorised in the EU, and orphan designations | EMA public data (reusable with attribution) | Official export tables, updated twice a day |
| FDA Orphan Drug Designations and Approvals (OOPD) | Orphan designations and approvals in the US | US government work (public domain) | Full export of the search form |
| China's National Reimbursement Drug List, 2025 edition | Drugs that name a rare disease in the drug name or in the restricted reimbursement scope | Government public document | 医保发〔2025〕33号, in force from 2026-01-01 |
How the catalog mapping is made
The rule is that only a certain match counts as a mapping.
- Automatic, exact. A catalog entry is accepted automatically when its Chinese or English name, after normalization, exactly equals an Orphanet name or synonym.
- Curated. The remaining entries are decided by hand. Each decision is recorded with its rationale and a confidence level, and appears in the note column of the downloadable table.
- Left unmapped. Entries with no corresponding Orphanet concept are marked as awaiting expert review. They are not forced onto a near match.
Fuzzy matching by similarity score is not used. In testing, results scoring 95 out of 100 included errors such as mapping "spinocerebellar ataxia", a whole group of diseases, to "spinocerebellar ataxia type 34", a single subtype.
Not used, and why
- OMIM primary data. Its license restricts commercial use and redistribution. The site shows OMIM numbers only as provided by Orphanet and links out; it does not copy OMIM content.
- DrugBank. Commercial use requires a paid license.
Known issues
- The Chinese disease names from Orphanet have not been systematically proofread, and some entries are clearly mistranslated (for example "scoliosis" rendered as the Chinese word for poliomyelitis). Fixing these requires checking entries one by one and is not finished.
- Ten catalog entries have no corresponding concept in Orphanet and are marked as awaiting expert review.
- Trials outside China include only statuses open to enrolment (recruiting, not yet recruiting, enrolling by invitation, expanded access) and are retrieved by exact disease name only, because broad terms at global scale return results too large to be meaningful. Trials with a site in China are not counted again in that section. The total reported by ClinicalTrials.gov can exceed the number actually retrieved; pages state how many were retrieved.
- Trials are found by searching disease names as text. Results matched only by a broader disease name are labelled as broad matches and listed separately, but trials can still be missed when a name is written differently. "Recruiting" is a registry status and does not guarantee that a site is enrolling today.
- Trials registered only on China's drug trial registry (chinadrugtrials.org.cn) and investigator-initiated trials are not yet included. A full manual retrieval on 2026-08-12 found registered trials for 95 of the 207 diseases, 759 in total, many of which do not appear on ClinicalTrials.gov. They are not published here because that registry can only be read in a real browser and cannot run in the automated build, while registry statuses change weekly. A frozen snapshot would mislead: an out-of-date "recruiting" could send someone to a site that closed long ago.
- The literature section gives English titles only.
- The EU and US drug section matches EMA and FDA indications to catalog diseases by disease name. Because many catalog entries are group-level concepts, narrower and broader names from the MONDO hierarchy are also included, and each page states which name produced the match. All such matches are written to a review file for manual checking.
- The two sides are counted differently. The EU side includes medicines whose current status is authorised. The US side records that a drug was approved at some point; the FDA public table does not track later withdrawal. Drug names are never translated, because Chinese generic names and transliterations often differ, and a wrong translation would send someone looking for a drug that does not exist.
- The reimbursement section answers only one question: whether the list names this disease in a drug name or in a restricted reimbursement scope. Of the 3,253 drugs in the list, only 560 (17.2%) have a restricted scope; the rest are reimbursable when used for their approved indications. No match does not mean no reimbursement. Provincial rules are outside the scope of this project.
Attempted but not obtained
- The list of 419 hospitals in China's national rare disease care network. The National Health Commission website returns HTTP 412 to automated access, and the list is in an attachment that has to be downloaded by hand.
- A drug-by-disease view of the reimbursement list and the NMPA drug database. Both block automated access, are organized by drug, and carry incomplete indication data, so mapping them to diseases needs manual checking.
Citing this site
The project's own curation, including the catalog mapping, is released under CC BY 4.0. Suggested citation: RareSeen (rareseen.org). China National Rare Disease Catalog to ORPHAcode mapping. followed by the date you accessed it. Data that originates upstream keeps its upstream license and should be attributed to its source as listed above.