DiseaseDb is a hand-curated registry for medical scientists, geneticists, diagnosticians and clinical researchers who already know where most of these resources live — and a discoverable map for everyone else.
The world's most widely used biomedical bibliographic database, with over 38 million references to journal articles across medicine, nursing, dentistry, veterinary medicine and the life sciences. MEDLINE forms its curated core, drawing from 5,200+ peer-reviewed journals. The standard starting point for any disease-related literature search.
PMC is the open-access full-text archive of biomedical and life-science literature maintained by NIH; Europe PMC is its European counterpart at EMBL-EBI. Together they hold millions of free full-text articles, preprints and grant-linked outputs — essential when PubMed's abstract-only records aren't enough.
Elsevier's biomedical and pharmacological database with more than 45 million records from over 8,500 journals plus conference abstracts and preprints. Overlaps with MEDLINE but adds substantial European and pharmacology-heavy content, making it standard for systematic reviews and drug-safety work.
Aggregates Cochrane systematic reviews and the CENTRAL register of controlled trials, produced by international review groups that maintain rigorous evidence-synthesis standards. The leading source for evidence-based summaries of interventions across virtually every disease area.
Clinician-facing decision-support resources that synthesise current evidence into continuously updated, topic-organised articles on diseases, treatments and diagnostics. Heavily used at the point of care and behind paywalls at most teaching hospitals worldwide.
Elsevier's integrated clinical reference platform combining textbooks, journals, practice guidelines, drug monographs and procedural videos in one search. Widely used as a clinical reference for diseases across all medical specialties.
Provides consumer-friendly information on more than 500 diseases and conditions, with content drawn from NIH and other vetted sources, plus encyclopedia entries, drug information and Spanish-language material. The go-to NIH-quality patient-facing resource.
Built on the GeneCards architecture, MalaCards integrates data on human diseases from roughly 70 sources into 'disease cards' covering aliases, genes, pathways, drugs, clinical trials, phenotypes and variants. Catalogues tens of thousands of disease entries across anatomical and global categories.
A long-running medical reference linking thousands of diseases, symptoms, medications and chemicals into a cross-referenced web. Included in the UMLS Metathesaurus and useful for quick lookup of differential-diagnosis relationships.
A community-driven ontology providing standardised, semantically consistent descriptions of human diseases with cross-references to ICD, MeSH, SNOMED, OMIM, NCI and others. Underpins many downstream tools that need a single canonical disease vocabulary.
Built by the Monarch Initiative, Mondo merges and harmonises terms from DO, Orphanet, OMIM, ICD, MeSH, NCIt, MedGen and EFO. Increasingly the reference vocabulary for cross-database disease integration in research.
Primarily clinical terminologies rather than research databases — yet SNOMED CT and the WHO's International Classification of Diseases (ICD-10 in widespread use, ICD-11 in adoption) are the backbone disease vocabularies for electronic health records, mortality statistics and billing worldwide.
Founded in France in 1997 and now spanning roughly 40 countries, the leading European portal for rare diseases and orphan drugs. Maintains the ORPHAcode nomenclature, lists thousands of rare diseases with epidemiology and inheritance, and feeds Orphadata and the ORDO ontology.
An NIH program run by NCATS offering free, plain-language summaries on over 6,500 rare diseases — covering symptoms, causes, treatments, prevalence, diagnosis and current research. The main U.S. patient- and clinician-facing rare disease portal.
Curated by NORD, publishes detailed reports on rare diseases — symptoms, causes, diagnosis, treatments and clinical trials — developed in close collaboration with Mondo, Orphanet and OMIM and supplemented by patient-advocacy resources.
Maintained at Johns Hopkins and updated daily, the authoritative compendium of human genes and Mendelian disorders, with information on 7,000+ genetic conditions and 15,000+ genes. Each entry has a unique MIM number and is curated from the primary literature — the gold-standard reference for inherited disease.
A multilingual online platform hosting moderated patient communities for individual rare diseases. Less of a structured scientific database and more a peer-to-peer information network — complementing clinical databases with lived-experience data.
The U.S. RaDaR programme and the European Reference Networks' disease-specific registries house longitudinal patient-level data for hundreds of individual rare conditions. Critical infrastructure for natural-history studies and trial recruitment.
Orphadata distributes Orphanet's data in machine-readable formats; the Orphanet Rare Disease Ontology (ORDO) provides a structured vocabulary linking rare diseases to genes, phenotypes and epidemiology for computational analyses.
NCBI's public archive of reported associations between human variants and phenotypes. Aggregates submissions from clinical labs, expert panels and researchers, with conflict-tracking and review status — the dominant resource for clinically interpreted variants.
Catalogues published germline mutations causing or associated with inherited disease in humans. The public version is older and limited, but the professional version is widely used by diagnostic labs.
NCBI's controlled-access repository for results of studies investigating the interaction of genotype and phenotype, including GWAS, sequencing studies and disease cohorts. Access to individual-level data requires data-access committee approval.
Curates published genome-wide association studies and their SNP–trait associations across thousands of diseases and traits. The standard reference for common-variant disease genetics.
One of the largest gene–disease association resources, DisGeNET integrates curated databases (UniProt, ClinVar, Orphanet, CTD, PsyGeNET and others) with text-mined literature, providing hundreds of thousands of gene–disease and variant–disease associations annotated with evidence-based scores.
Builds authoritative, expert-curated knowledge about clinical relevance of genes and variants — gene–disease validity, dosage sensitivity and actionability. Works closely with ClinVar and is increasingly the canonical reference for clinical-grade gene–disease curation.
A consortium aggregating gene–disease validity assertions from leading curation efforts (ClinGen, DECIPHER, Orphanet, Genomics England PanelApp and others) into a single harmonised view.
A standardised vocabulary of phenotypic abnormalities encountered in human disease, with extensive annotations linking thousands of diseases — especially rare and Mendelian — to their characteristic phenotypes. Used worldwide in clinical genetics and diagnostic pipelines.
A Sanger-Wellcome–hosted database of submitted patient cases with rare genomic variants (CNVs and sequence variants) plus associated phenotypes — used by clinical geneticists for variant interpretation and cohort matchmaking across centres.
A platform hosting hundreds of locus- or gene-specific variant databases, allowing curators to share variants and phenotypes for individual genes implicated in disease.
A specialised database of human mitochondrial DNA variation and disease associations, maintained as a community reference for mitochondrial disorders.
Stanford-led resource curating pharmacogenomic relationships between genes, variants, drugs and diseases, including dosing guidelines from CPIC and others. Central to precision-medicine work on adverse drug reactions and treatment response.
gnomAD aggregates exome and genome sequencing from 800,000+ unrelated individuals, providing allele frequencies and gene-level constraint metrics indispensable when filtering candidate disease variants. The earlier 1000 Genomes Project provided foundational diversity data still cited in disease genetics.
The world's most comprehensive resource for somatic mutations in human cancer, drawing on tens of thousands of publications and large studies. Includes the Cancer Gene Census, Mutational Signatures, Cancer Mutation Census and Actionability resources.
A landmark NCI/NHGRI program that characterised more than 20,000 primary tumors and matched normals across 33 cancer types using multi-omics, with data accessible through the GDC (Genomic Data Commons) and downstream portals.
Originally developed at MSK, provides interactive web-based exploration of large cancer genomics datasets (TCGA, MSK-IMPACT and many others), with visual tools for mutations, copy number, expression, methylation, clinical data and survival.
The International Cancer Genome Consortium aggregates cancer genome data across countries; the Pan-Cancer Analysis of Whole Genomes (PCAWG) extended this to whole-genome sequences of more than 2,800 cancers, with strong coverage of noncoding and structural variation.
Precision-oncology knowledge bases curating the clinical significance of cancer variants — therapeutic, diagnostic and prognostic implications. CIViC is open and community-edited; OncoKB is FDA-recognised in part.
Operated by NCI, provides authoritative U.S. cancer incidence, prevalence, survival and mortality statistics — the primary epidemiology source for U.S. cancer research.
The International Agency for Research on Cancer produces GLOBOCAN (global cancer incidence and mortality estimates), CI5 (Cancer Incidence in Five Continents) and the IARC Monographs on carcinogens — essential global cancer references.
WHO maintains a wide range of disease databases including the Global Health Observatory, Global Health Estimates, the Global Influenza Surveillance and Response System (FluNet/FluID), the Global Tuberculosis Database and outbreak/epidemic intelligence platforms.
A CDC system that opens U.S. public-health data for queries: mortality, cancer incidence, HIV/AIDS, tuberculosis, vaccinations, natality, environmental and occupational data — returning summarised statistics, charts and maps.
A global initiative for sharing influenza and SARS-CoV-2 (and other pathogen) genomic and surveillance data — central to outbreak genomic epidemiology since the COVID-19 pandemic.
NCBI Virus catalogues viral sequences and metadata; BV-BRC (formerly PATRIC/IRD/ViPR) is an NIAID-funded bacterial- and viral-pathogen bioinformatics resource integrating genomic, transcriptomic, proteomic and epidemiological data on human pathogens.
A specialty NIAID resource, now part of BV-BRC, for influenza sequence, surveillance, host-response and immunology data.
The canonical HIV sequence, immunology and resistance database, complemented by the Stanford HIV Drug Resistance Database. The reference for any HIV-related genomic or immunological work.
Specialised resources for tuberculosis genomics, drug resistance, and country-level incidence and treatment outcomes.
MalariaGEN aggregates genomic and epidemiological data on malaria parasites, vectors and hosts; PlasmoDB (part of VEuPathDB) is the functional-genomics database for Plasmodium and is widely used for malaria research.
Real-time outbreak intelligence sources aggregating news and reports to detect emerging infectious-disease threats — widely used by epidemiologists and journalists.
A NIH database aggregating autism-related research data (genetic, imaging, behavioral, clinical) across studies for shared analysis. The broader NIMH Data Archive hosts similar databases for other psychiatric conditions.
A large public-private cohort database with longitudinal imaging, biomarker, genetic and clinical data on Alzheimer's disease, used by thousands of researchers worldwide.
AlzForum curates research news and a mutations database for genes implicated in Alzheimer's; complemented by NIA-sponsored resources like NIAGADS, the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site.
The UK's National Congenital Heart Disease Audit and the U.S. Society of Thoracic Surgeons registries collect outcomes for cardiac procedures. Analogous national registries exist worldwide for benchmarking and quality improvement.
Run by IHME, GBD quantifies death and disability from hundreds of diseases, injuries and risk factors across countries and over time — the standard source for comparative epidemiology.
A specialised database compiling information on genetic diseases reported in the Indian subcontinent, including population-specific mutations.
An NIAID-funded immunology data resource hosting clinical and mechanistic immunology study data, including immune-mediated disease cohorts.
A widely used Canadian database combining detailed drug data with comprehensive drug-target, drug-indication and drug-interaction information, including links to diseases each drug treats or affects.
A public resource at NC State linking chemicals, genes, phenotypes and diseases through manually curated and inferred interactions — central to environmental-health and toxicogenomic research on disease.
EMBL-EBI's manually curated bioactivity database connecting small molecules with their assayed targets, mechanisms and indications — including many disease-related drug discovery datasets.
TTD catalogues known and explored therapeutic targets with corresponding diseases and approved/clinical drugs. Open Targets integrates genetics, omics, literature and drug data to score gene–disease associations and prioritise drug targets.
Part of the KEGG suite, catalogues human diseases linked to KEGG pathways, drug targets and genes, with a heavy emphasis on systems-level disease mechanisms.
A curated pathway database that includes disease-related pathway variants showing how mutations perturb normal molecular processes.
An integrative cross-species platform bringing together phenotype, gene, variant and disease data from many sources (HPO, Mondo, ClinVar, OMIM, model-organism databases) to support diagnosis and translational research — especially for rare disease.
Not a disease database per se, but the NLM's Metathesaurus unifies more than 200 biomedical vocabularies (SNOMED CT, MeSH, ICD, RxNorm, LOINC and others) — the connective tissue across virtually every disease database in this registry.