Free rare disease reference · by Eleplan
Rare Disease Lookup
Search 11,600+ rare diseases by name, by the synonym you were actually given, or by ORPHAcode — and get the definition, how common it is, how it is inherited, the genes involved, and the ICD-10 codes it is filed under. Free, no signup.
- ✓Definition, prevalence & inheritance
- ✓Causative genes
- ✓ICD-10 & OMIM cross-references
- ✓Always free, no signup
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Why the billing code on your paperwork looks wrong
ICD-10 was not built to name rare disease. Of the rare diseases that have an ICD-10 code at all, only about 7% are named exactly; the rest are filed into the nearest available code by rule. One code — Q87.8, “other specified congenital malformation syndromes” — holds 582 different diseases on its own.
So a code is a filing location here, not an identity. Every code on these pages says which of the two it is, and how many other diseases share it. The identity is the ORPHAcode, which is what a specialist, a registry or a trial will recognise.
Reference only — not medical advice, and not a diagnosis. Rare disease information changes as research does; confirm anything clinical with the treating team.
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