Glossary

A preferred name that returned no results in either Europe PMC or ClinicalTrials.gov under our phrase and MeSH strategies (and trial recall-expansion where used).

This is usually evidence that the official string does not work as a search term — not proof that research is absent. Broken-query rows are excluded from site-wide percentages.

The published snapshot of diseases currently powering the live site (sample, limit, or full usable corpus).

Until a full ingest finishes and replaces diseases.json, the live site may be a random sample (for example n=300). Findings pages are fixed historical measurements and may differ from the live homepage.

An accuracy check where two independent model providers judge whether matched trials are relevant, with light human fix of disagreements.

Reported recall and precision come from that gold set. Precision is among NCT IDs already labelled there — not over every trial the pipeline returns. It is not a full unaided human review of every disease.

A pathway for using an investigational product outside a clinical trial, often when no satisfactory alternatives exist.

ClinicalTrials.gov lists some expanded-access records. We surface them when matched but do not count them toward the interventional-trial headline.

A registered clinical study that assigns participants to an intervention (for example a drug, device, or procedure) to test its effects.

On this site, the headline “no trial” count uses only interventional studies from ClinicalTrials.gov that match the specific condition name. Observational studies and expanded-access records are shown separately and do not fill a zero in the headline.

Medical Subject Headings — NLM’s controlled vocabulary for indexing biomedical topics.

When Mondo links a disease to a MeSH ID and we can resolve a descriptor label, that label is unioned into Europe PMC and ClinicalTrials.gov queries. A trial registered under a MeSH condition name can match even when no free-text phrase would.

A high / medium / low label for how trustworthy the publication and trial counts are for this name.

Low confidence often means the name is ambiguous, ultra-specific, or failed to retrieve results cleanly. Always read the query and confidence note on the disease page before treating a zero as neglect.

A registered study that follows people without assigning a treatment as the main intervention — including natural-history and cohort studies.

These can still matter for families (recruiting registries, better disease understanding) but they are not counted as interventional trials in our headline percentages.

An interventional trial matched to a broader disease category this condition belongs to in Mondo (for example a Gaucher subtype under Gaucher disease).

Those studies may or may not enrol people with the specific subtype — eligibility varies and the registry record often does not say. We show the count separately so you can discuss it with a clinician.

Where this disease’s count sits relative to others in the same denominator (0–100).

A trials percentile near 100 means relatively many matched interventional trials compared with other diseases in the trials denominator of this build.

The set of diseases whose preferred names support a credible literature count under our rules.

Names flagged for collision / neglect risk, or that return nothing in Europe PMC under our queries, are excluded so zeros are less likely to be search artifacts.

Extra carefully filtered search terms (for example gene symbols or selected Mondo parents) used to find trials that phrase/MeSH matching alone might miss.

Used for ClinicalTrials.gov matching, not as the basis for publication denominators. Disease pages record when a trial matched via recall-expansion.

Matching a trial or paper using this disease’s preferred label, synonyms, and resolved MeSH — not only a broader parent category.

Our conservative headline requires a specific-condition match. Trials registered only under a broader Mondo parent are shown on the disease page but do not reduce the no-trial share unless we report the parent-inclusive sensitivity figure.

Diseases with no publication in the last ten years and no matched interventional trial, within the intersection of the publications and trials denominators.

The Thin attention list is a landscape signal, not a diagnosis of neglect. Broken queries and naming mismatches still matter — open the disease page.

The set of diseases in this build used when computing “share with no interventional trial.”

Incomplete trial fetches, uncapped scans, and probable broken queries are excluded. Percentages are of this denominator, not of every Orphanet row or every rare disease worldwide.

The U.S. National Library of Medicine registry of clinical studies (API v2).

We query the condition field with quoted phrases and MeSH, plus recall-expansion when applicable. Study-type filters separate interventional, observational, and expanded-access records.

A life-sciences literature database and API (EMBL-EBI) covering PubMed and full-text sources.

Publication totals, author samples, and yearly trends on disease pages come from Europe PMC searches built from names, synonyms, and MeSH labels.

The Gene Curation Coalition — expert assertions about gene–disease validity.

Joined on MONDO / ORPHA identifiers. Classifications (Definitive, Strong, Moderate, Limited, etc.) appear in plain language on disease pages when present.

India’s National Policy for Rare Diseases and related notified-disease lists from MoHFW / PIB sources.

A hand-curated layer in data/india-nprd.json marks conditions on or under those lists (including Mondo-parent umbrellas). Official notified counts are inconsistent across public sources.

The Mondo Disease Ontology — a merged disease vocabulary with hierarchy and cross-references to other ID systems.

We use Mondo for parent/umbrella matching, exact synonyms, zero-publication naming-artifact checks, and cross-references (MeSH, UMLS, OMIM, NCIT). Only resolved MeSH labels enter search queries today.

Orphanet’s stable numeric identifier for a rare disease entity (shown as ORPHA:12345).

Each disease page URL uses the ORPHAcode. Use it when reporting errors so the right record can be checked.

A European reference resource for rare diseases: nomenclature, definitions, synonyms, and related clinical information.

This atlas starts from Orphanet / Orphadata product1 names (CC BY 4.0). Groups of disorders and preferred names marked OBSOLETE: or NON RARE IN EUROPE: are dropped before sampling.

Other biomedical identifier systems often linked from Mondo (unified concepts, Mendelian genes/diseases, NCI thesaurus).

Cross-references are shown on disease pages for transparency. They are not currently unioned into Europe PMC or ClinicalTrials.gov query strings — only MeSH labels are.

When the blood becomes too acidic.

Trouble with balance and coordinated movement.

Related to the non-sex chromosomes.

A disease of the heart muscle.

Present from birth.

Skills such as sitting, walking, or talking arrive later than usual.

Usually needs a changed gene copy from one parent to show up.

Facial or body features that look different from typical patterns.

Tissue that developed in an unusual way.

A condition where tissue (often muscle) weakens over time.

A disorder affecting how the brain works.

A protein that helps a chemical reaction happen in the body.

Treatment that supplies an enzyme the body is missing.

A tendency to have repeated seizures.

The cause of a condition.

Not gaining weight or growing as expected.

Treatment that tries to fix or replace a faulty gene.

The genetic makeup related to a condition.

An enlarged liver.

Enlarged liver and spleen.

Passed down in families through genes.

Too much ammonia in the blood.

High muscle tone; muscles feel stiff.

Low blood sugar.

Low muscle tone; babies may feel floppy.

Cause not yet identified.

In early childhood / infancy.

Significant limits in learning and everyday reasoning skills.

A body part that formed differently before birth.

Related to how the body processes food and chemicals for energy.

Related to mitochondria — the energy-making parts of cells.

A disease of the muscles.

In the newborn period.

Damage or disease affecting the nerves.

How a disease develops in the body.

The observable signs and features of a condition.

Before birth.

Tends to change or worsen over time.

Usually needs a changed gene copy from both parents to show up.

Sudden bursts of abnormal electrical activity in the brain.

An enlarged spleen.