raremap rare-disease reference index Orphadata 2026-06-23 · HPO 2026-09-01

Static data API

There is no server behind raremap. Everything the tools use is a JSON file under /data/, and you can fetch the same files. No key, no rate limit beyond the web server's, no tracking.

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Files

sizes from the current build
PathSizeTransfer
/data/index.json1.18 MB0.30 MB gzip
/data/xref.json1.59 MB0.24 MB gzip
/data/genes.json0.92 MB0.26 MB gzip
/data/hpo/terms.json1.92 MB0.48 MB gzip
/data/hpo/annotations.json0.97 MB0.29 MB gzip
/data/raremap-data.json.gz17.04 MB17.04 MB gzip
/data/names/en.json1.14 MB0.29 MB gzip
/data/names/fr.json1.23 MB0.30 MB gzip
/data/names/de.json1.13 MB0.31 MB gzip
/data/names/es.json1.23 MB0.30 MB gzip
/data/names/it.json1.14 MB0.29 MB gzip
/data/names/nl.json1.28 MB0.32 MB gzip
/data/names/pt.json0.92 MB0.24 MB gzip
/data/names/pl.json1.22 MB0.34 MB gzip
/data/names/cs.json1.27 MB0.34 MB gzip
/data/names/uk.json1.91 MB0.37 MB gzip
/data/names/zh.json0.70 MB0.21 MB gzip
/data/names/tr.json1.00 MB0.27 MB gzip
/data/d/<orpha>.json11,645 files72.5 MB total, median 6.0 kB
/data/d/ORPHA-<n>/index.html11,645 files137.3 MB total, median 11.2 kB
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One disorder

GET /data/d/<orpha>.json — the full record for one ORPHAcode, e.g. /data/d/558.json. Fields:

orpha, name, type, group, status, flagsORPHAcode (integer), English preferred name, Orphanet disorder type and group; status is active, inactive, obsolete, deprecated or historical (from Orphanet's flags).
synonyms, definition, noteEnglish synonyms and definition; note is Orphanet's automatic text for moved entries.
names{lang: {name, synonyms, definition}} for fr de es it nl pt pl cs uk zh tr, where Orphadata ships them.
xrefs[{source, code, qualifier, icd_relation, validated, icd11_uri?}]. source: OMIM, ICD-10, ICD-11, MONDO, MeSH, UMLS, GARD, MedDRA. qualifier: E, NTBT, BTNT, ND (W if Orphanet ever ships it). icd_relation: specific, attributed, index, inclusion.
associations, incoming_associationsOrphanet's "Moved to" / "Referred to" links from and to this code.
preferential_parent, parents, childrenLinearisation parent (product 7) and classification parents/children (product 3), parents with the classification ids they come from (names in meta.json).
genes, genes_via_subtypes[{symbol, name, gene_type, association, status, source, hgnc, ensembl, omim, loci}]. genes_via_subtypes lists genes Orphanet records on this disorder's subtypes, each with via.
inheritance, onsetLists of Orphanet labels (product 9).
prevalence[{type, qualification, class, value, area, status, source}]; value is Orphadata's ValMoy.
phenotypes{validation_status, validation_date, source, terms: [{hpo, label, frequency, criteria}]} (product 4).
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Bulk files

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Examples

curl -s https://raremap.alftech.space/data/d/558.json | jq '.xrefs[] | select(.source=="OMIM")' # every ORPHAcode that Orphanet maps to ICD-10 Q87.4, with its qualifier curl -s https://raremap.alftech.space/data/xref.json | jq -r ' .sources as $s | .d | to_entries[] | .key as $o | .value[0][] | select($s[.[0]]=="ICD-10" and .[1]=="Q87.4") | "ORPHA:\($o)\t\(.[2])"'
// JavaScript, in a page const rec = await (await fetch('https://raremap.alftech.space/data/d/586.json')).json(); console.log(rec.name, rec.genes.map(g => g.symbol));
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Python package

pure Python 3.8+, standard library only

The wheel bundles the same data, so it works offline after installing.

pip install https://raremap.alftech.space/dl/raremap-2026.6.0-py3-none-any.whl
import raremap rows = raremap.crosswalk(["OMIM:154700", "Q87.4", "Mukoviszidose"]) # list of dicts, one per (input, ORPHAcode) rec = raremap.disease("ORPHA:558") # the same record as /data/d/558.json res = raremap.differential(["HP:0001166", "HP:0001083", "HP:0002616", "HP:0000098"]) for r in res["results"][:3]: print(r["orpha"], r["name"], r["score"], r["explanation"]) print(raremap.info()) # data versions
raremap crosswalk codes.txt > out.csv # one identifier per line; --format tsv|excel|json raremap disease ORPHA:586 # JSON record raremap differential HP:0001166 HP:0001083 -n 5 raremap search marfan raremap hpo arachnodactyly raremap info

Data lookup order: $RAREMAP_DATA, the copy inside the wheel, ~/.cache/raremap/, then a one-time download of /data/raremap-data.json.gz.

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Terms of use

Orphanet data: CC BY 4.0; credit "Orphanet (Orphadata Science), INSERM" and give the version from meta.json. HPO: use with credit and the version shown; do not modify its terms or relationships (licence). raremap is not an Orphanet product and was not validated by Orphanet/INSERM. Nothing here is medical advice.