Tag: disease

Found 154 sources
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Reactome - a curated knowledgebase of biological pathways

REACTOME is an open-source, open access, manually curated and peer-reviewed pathway database.

Human Phenotype Ontology

The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect. The HPO is currently being develope ...


GenBank is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences. The complete release notes for the current version of GenBank are available on the NCBI ftp site. A new release is made every two months. G ...

Comparative Toxicogenomics Database

Database that aims to advance understanding about how environmental exposures affect human health. It provides manually curated information about chemical–gene/protein interactions, chemical–disease and gene–disease relationships. These data are inte ...


ClinicalTrials.gov is a Web-based resource that provides patients, their family members, health care professionals, researchers, and the public with easy access to information on publicly and privately supported clinical studies on a wide range of di ...

Mouse Genome Database - a Mouse Genome Informatics (MGI) Resource

MGI is the international database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data to facilitate the study of human health and disease. Data includes gene characterization, nomenclature, mapping, gene homo ...

Disease Ontology

The Disease Ontology has been developed as a standardized ontology for human disease with the purpose of providing descriptions of human disease terms, phenotype characteristics and related medical vocabulary disease concepts. Releases: https://githu ...

DisGeNET: a knowledge base for disease genomics

DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific liter ...

NCI Thesaurus

NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research and public information.

Online Mendelian Inheritance in Man

Online Mendelian Inheritance in Man. It is an authoritative compendium of human genes and phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relation ...


WormBase is an international consortium of biologists and computer scientists dedicated to providing the research community with accurate, current, accessible information concerning the genetics, genomics and biology of C. elegans and related nematod ...


BRENDA is the main collection of enzyme functional data available to the scientific community.

STrengthening the Reporting of OBservational studies in Epidemiology

STROBE was created by an international, collaborative initiative of epidemiologists, methodologists, statisticians, researchers and journal editors involved in the conduct and dissemination of observational studies, with the common aim of STrengtheni ...

Transporter Classification Database

This freely accessible database details a comprehensive IUBMB approved classification system for membrane transport proteins known as the Transporter Classification (TC) system. The TC system is analogous to the Enzyme Commission (EC) system for clas ...

The Cancer Genome Atlas

The Cancer Genome Atlas (TCGA) is a comprehensive, collaborative effort led by the National Institutes of Health (NIH) to map the genomic changes associated with specific types of tumors to improve the prevention, diagnosis and treatment of cancer. I ...


ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variat ...

GeneCards: human genes, protein and diseases

GeneCards is a searchable, integrated, database of human genes that provides concise genomic, transcriptomic, genetic, proteomic, functional and disease related information on all known and predicted human genes.

Rat Genome Database

The Rat Genome Database is the premier site for genetic, genomic, phenotype, and disease data generated from rat research. It provides easy access to corresponding human and mouse data for cross-species comparison and its comprehensive data and innov ...

Autism Brain Imaging Data Exchange

Autism Brain Imaging Data Exchange (ABIDE) initiative has aggregated functional and structural brain imaging data collected from laboratories around the world to accelerate our understanding of the neural bases of autism (ASD Autism Spectrum Disorder ...

Database of Protein Disorder

The Database of Protein Disorder (DisProt) is a curated database that provides information about proteins that lack fixed 3D structure in their putatively native states, either in their entirety or in part.

Medical Dictionary for Regulatory Activities Terminology

MedDRA is a multilingual terminology allowing most users to operate in their native languages. MedDRA can be used to analyse individual medical events (e.g., “Influenza”) or issues involving a system, organ or etiology (e.g., infections) using its hi ...

Pathogen Host Interactions

PHI-Base contains expertly curated molecular and biological information on genes proven to affect the outcome of pathogen-host interactions. PHI-base catalogues experimentally verified pathogenicity, virulence and effector genes from fungal, Oomycete ...

BRCA Share

BRCA Share is a novel gene datashare initiative that provides scientists and commercial laboratory organizations around the world with open access to BRCA Share (formerly UMD-BRCA1) contains BRCA1 and BRCA2 genetic data. The program’s goal is to acce ...

The Autism Chromosome Rearrangement Database

The Autism Chromosome Rearrangement Database is a collection of hand curated breakpoints and other genomic features, related to autism, taken from publicly available literature, databases and unpublished data.

TDR Targets

Identification and ranking of targets and bioactive compounds against neglected tropical diseases. TDR Targets integrates chemical and genomic information and allows users to prioritize targets and compounds to develop and repurpose new drugs and che ...

Online Mendelian Inheritance in Man Ontology

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes as well as the relationship between them, that is freely available and updated daily. The OMIM ontology contains terms used within the OMIM database.

Virulence Factor Database

VFDB is an integrated and comprehensive database of virulence factors for bacterial pathogens (also including Chlamydia and Mycoplasma).

TTD, Therapeutic Target Database

The Therapeutic Target Database provides information about therapeutic protein and nucleic acid targets, the targeted disease, pathway information and the corresponding drugs directed at each of these targets. Also included in this database are links ...

Open Targets

Open Targets is a data integration platform for access to and visualisation of potential drug targets associated with disease. Each drug target is linked to a disease using integrated genome-wide data from a broad range of data sources.

BioSamples at the European Bioinformatics Institute

The BioSamples database aggregates sample information for reference samples (e.g. Coriell Cell lines) and samples for which data exist in one of the EBI's assay databases such as ArrayExpress, the European Nucleotide Archive or PRIDE. It provides lin ...


Orphanet is gathering knowledge on orphaned drugs and rare diseases (with genes involved). Data available via http://www.orphadata.org/

Sequencing Initiative Suomi

The Sequencing Initiative Suomi (SISu) search engine offers a way to search for data on sequence variants in the Finnish population. It provides valuable summary data for researchers and clinicians as well as other researchers with an interest in gen ...

Chemical Effects in Biological Systems (CEBS)

CEBS (Chemical Effects in Biological Systems) is an integrated public repository for toxicogenomics data, including the study design and timeline, clinical chemistry and histopathology findings and microarray and proteomics data. CEBS contains data d ...

International Classification of Diseases Version 10

ICD-10 is the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD), a medical classification list by the World Health Organization. It contains codes for diseases, signs and symptoms, abnormal fi ...

Exome Aggregation Consortium Browser

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. ...

Project Tycho: Data for Health

In 2013, we released the first version of Project Tycho containing weekly case counts for 50 notifiable conditions reported by health agencies in the United States for 50 states and 1284 cities between 1888 and 2014. Over the past four years, over 37 ...

Toxoplasma Genomics Resource

ToxoDB is a genome database for the genus Toxoplasma, a set of single-celled eukaryotic pathogens that cause human and animal diseases, including toxoplasmosis.

BIG Data Center

The BIG Data Center at Beijing Institute of Genomics (BIG) of the Chinese Academy of Sciences provides a suite of database resources in support of worldwide research activities in both academia and industry. With the vast amounts of multi-omics data ...


SNPeffect is a database for phenotyping human single nucleotide polymorphisms (SNPs). SNPeffect primarily focuses on the molecular characterization and annotation of disease and polymorphism variants in the human proteome. Further, SNPeffect holds pe ...


The GeneWeaver data and analytics website is a publically available resource for storing, curating and analyzing sets of genes from heterogeneous data sources. The system enables discovery of relationships among genes, variants, traits, drugs, enviro ...

Clinical Measurement Ontology

The Clinical Measurement Ontology is designed to be used to standardize morphological and physiological measurement records generated from clinical and model organism research and health programs.

AceView Worm Genome

AceView provides a curated, comprehensive and non-redundant sequence representation of all public mRNA sequences (mRNAs from GenBank or RefSeq, and single pass cDNA sequences from dbEST and Trace). These experimental cDNA sequences are first co-align ...

Biologic Specimen and Data Repository Information Coordinating Center

The goal of Biologic Specimen and Data Repository Information Coordinating Center (BioLINCC) is to facilitate and coordinate the existing activities of the NHLBI Biorepository and the Data Repository and to expand their scope and usability to the sci ...

PhenX Phenotypic Terms

Standard measures related to complex diseases, phenotypic traits and environmental exposures.

The Chromosome 7 Annotation Project

The objective of this project is to generate the most comprehensive description of human chromosome 7 to facilitate biological discovery, disease gene research and medical genetic applications.

Autism Knowledgebase

Autism genetics KnowledgeBase, an evidence-based knowledgebase of autism genetics.

Genomics England | PanelApp

Genomics England PanelApp is a publically-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes to be added or reviewed by experts thro ...

Human Ageing Genomic Resources

The Human Ageing Genomic Resources (HAGR) is a collection of databases and tools for the biology and genetics of ageing. HAGR features several databases with high-quality, manually-curated data: 1) GenAge, a database of genes associated with ageing i ...


The MalaCards human disease database (http://www. malacards.org/) is an integrated compendium of annotated diseases mined from 68 data sources. MalaCards has a web card for each of ∼20 000 disease entries, in six global categories. It portrays a broa ...


The SugarBind Database (SugarBindDB) was created in 2002 as part of an effort by the MITRE Corporation (http://www.mitre.org) to develop a pathogen-capture technology based on the binding of viral, bacterial and biotoxin lectins to specific glycans ( ...

Pathway Ontology

The goal of the Pathway Ontology is to cover all types of biological pathways, including altered and disease pathways, and to capture the relationships between them within the hierarchical structure of a Directed Acyclic Graph (DAG). The five nodes o ...

database of Disease-Gene Associations with annotated Relationships

eDGAR is a database collecting and organizing the data on gene/disease associations as derived from OMIM, Humsavar and ClinVar. For each heterogeneous or polygenic disease, eDGAR provides information on the relationship among the proteins encoded by ...

Target Central Resource Database

TCRD is the central resource behind the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC). TCRD contains information about human targets, with special emphasis on four families of targets that are central to the NIH IDG initiati ...

The ITHANET Portal

The ITHANET Portal represents an expanding resource for clinicians and researchers dealing with haemoglobinopathies and a port of call for patients in search of professional advice. The ITHANET Portal integrates information on news, events, clinical ...

Type 1 Diabetes Database

T1DBase focuses on two research areas in type 1 diabetes (T1D): the genetics of T1D susceptibility and beta cell biology.

Telomerase Database

The Telomerase Database is a Web-based tool for the study of structure, function, and evolution of the telomerase ribonucleoprotein. The objective of this database is to serve the research community by providing a comprehensive compilation of informa ...

Orphanet Rare Diseases Ontology

Orphanet Rare Diseases Ontology (ORDO) provide a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features which will form a useful resource for the computational analysis of rare diseases.

Exposure Ontology

Exposure Ontology (ExO) is designed to facilitate the centralization and integration of exposure data to inform understanding of environmental health. ExO is intended to bridge the gap between exposure science and diverse environmental health discipl ...

Mitochondrial Disease Sequence Data Resource

The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a centralized genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phen ...


PathBank is an interactive, visual database containing more than 100 000 machine-readable pathways found in model organisms such as humans, mice, E. coli, yeast, and Arabidopsis thaliana. The majority of these pathways are not found in any other path ...

Common Terminology Criteria for Adverse Events

A coding system for reporting adverse events that occur in the course of cancer therapy. It was derived from the Common Toxicity Criteria (CTC) v2.0 and is maintained by the Cancer Therapy Evaluation Program (CTEP) at the National Cancer Institution ...

Symptom Ontology

The symptom ontology was designed around the guiding concept of a symptom being: "A perceived change in function, sensation or appearance reported by a patient indicative of a disease". There is a close relationship between Signs and Symptoms, where ...

Human disease methylation database

The human disease methylation database, DiseaseMeth is a web based resource focused on the aberrant methylomes of human diseases. Until recently, bulks of large-scale data are avaible and are increasingly grown, from which more information can be min ...

Coronavirus Infectious Disease Ontology

The Ontology of Coronavirus Infectious Disease (CIDO) is a community-driven open-source biomedical ontology in the area of coronavirus infectious disease. The CIDO is developed to provide standardized human- and computer-interpretable annotation and ...

Enzyme Portal

The Enzyme Portal is for those interested in the biology of enzymes and proteins with enzymatic activity. It integrates publicly available information about enzymes, such as small-molecule chemistry, biochemical pathways and drug compounds. It contai ...

MouseMine @ MGI

A database of integrated mouse data from MGI, powered by InterMine. MouseMine is member of InterMOD, a consortium of model organism databases dedicated to making cross-species data analysis easier through ongoing coordination and collaborative system ...

eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network

The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories ...


KinMutBase is a comprehensive database of disease-causing mutations in protein kinase domains. This resources provides plenty of information, namely mutation statistics and display, clickable sequences with mutations and changes to restriction enzyme ...

Drug Target Ontology

Drug Target Ontology (TDO) is developed as a reference for drug targets with the longer-term goal to create a community standard that will facilitate the integration of diverse drug discovery information from numerous heterogeneous resources. The fir ...


Allergome aims to supply information on Allergenic Molecules (Allergens) causing an IgE-mediated (allergic, atopic) disease (anaphylaxis, asthma, atopic dermatitis, conjunctivitis, rhinitis, urticaria). The resource is funded through the Allergen Dat ...

Ontology for General Medical Science

The Ontology for General Medical Science (OGMS) is an ontology of entities involved in a clinical encounter. OGMS includes very general terms that are used across medical disciplines, including: 'disease', 'disorder', 'disease course', 'diagnosis', ' ...

Ontology for Genetic Susceptibility Factor

Ontology for Genetic Susceptibility Factor (OGSF) is an application ontology to model/represent the notion of genetic susceptibility to a specific disease or an adverse event or a pathological biological process. It is developed using BFO 2.0's frame ...

Domain mapping of disease mutations

Domain mapping of disease mutations (DMDM) is a database in which each disease mutation can be displayed by its gene, protein or domain location.

International Microvillus Inclusion Disease Patient Registry

The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotyp ...

Patients-Derived tumor Xenograft Finder

PDX Finder is an open repository for the upload and storage of clinical, genomic and functional Patient-Derived Xenograph (PDX) data which provides a comprehensive global catalogue of PDX models available for researchers across distributed repository ...

Minimum Information About Somatic Mutation

MIASM was developed for the collection of somatic variations to promote standards for annotations of somatic variation data, and to promote data integration with other data resources. The guidelines have been published and recently updated.

Parkinson's Progression Markers Initiative

PPMI is an observational clinical study to verify progression markers in Parkinson’s disease. The study is designed to establish a comprehensive set of clinical, imaging and biosample data that will be used to define biomarkers of PD progression. Onc ...


Disbiome is a database covering microbial composition changes in different kinds of diseases. Disease names, detection methods or organism names can be used as search queries giving that return information related to the experiment (related disease/b ...

Human Disease-Related Viral Integration Sites

Dr.VIS collects and locates human disease-related viral integration sites. So far, about 600 sites covering 5 virus organisms and 11 human diseases are available. Integration sites in Dr.VIS are located against chromesome, cytoband, gene and refseq p ...

International Classification of Diseases Version 11

The International Classification of Diseases (ICD) was created to allow the recording, reporting and grouping of conditions and factors that influence health. It contains categories for diseases, health related conditions, and external causes of illn ...

NIDA Center on Genetics Studies

This resource stores and distributes clinical data and biomaterials (DNA samples and cell lines) available in the NIDA Genetics Initiative. This includes blood and other biospecimens along with phenotypic data.

National Addiction & HIV Data Archive Program (NAHDAP)

NAHDAP acquires, preserves and disseminates data relevant to drug addiction and HIV research. The scope of the data housed at NAHDAP covers a wide range of legal and illicit drugs (alcohol, tobacco, marijuana, cocaine, synthetic drugs, and others) an ...

Immune Tolerance Network TrialShare

The immune tolerance data management and visualization portal for studies sponsored by the Immune Tolerance Network (ITN) and collaborating investigators. Data from published studies are accessible to any user; data from current in-progress studies a ...

Infectious Disease Ontology Core

The IDO ontologies are designed as a set of interoperable ontologies that will together provide coverage of the infectious disease domain. At the core of the set is a general Infectious Disease Ontology (IDO-Core) of entities relevant to both biomedi ...

International Classification of Diseases Version 9 - Clinical Modification

The ICD is the international standard diagnostic classification for all general epidemiological, many health management purposes and clinical use. International Classification of Diseases, Clinical Modification (ICD-9-CM) is an adaption created by th ...

Cerebrotendinous Xanthomatosis Ontology

The ontology represents CTX phenotypes, genetic variants, and bidirectional relationships between them though a patient model. The CTX ontology was build reusing the Human Phenotype Ontology (HPO) and the Snomed ct ontologies. A set of temporal clini ...

International Harmonization of Nomenclature and Diagnostic criteria

Standard reference for nomenclature and diagnostic criteria in toxicologic pathology.

DistiLD Database: Diseases and Traits in Linkage Disequilibrium Blocks

The DistiLD database aims to increase the usage of existing genome-wide association studies (GWAS) results by making it easy to query and visualize disease-associated SNPs and genes in their chromosomal context.

Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts

The Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts (DBKERO) stores transcriptome information with a catalogue of genomic variations including public SNP data and epigenome information to ena ...

Mexican Health and Aging Study

The MHAS study is a series of questionnaires distributed in waves, the fourth of which was fielded in the Fall of 2015. Research goals include, but are not limited to the following: examination of the aging processes and its disease and disability bu ...


DISNOR is a resource that uses a comprehensive collection of disease associated genes, as annotated in DisGeNET, to interrogate SIGNOR (https://signor.uniroma2.it) in order to assemble disease-specific logic networks linking disease associated genes ...


The SpliceDisease database provides information linking RNA splicing to human disease, including the change of the nucleotide in the sequence, the location of the mutation on the gene, the reference Pubmed ID and detailed description for the relation ...

International Classification of Diseases Version 10 - Procedure Coding System

The ICD-10 Procedure Coding System (ICD-10-PCS) is an international system of medical classification used for procedural coding. The ICD-10-PCS is a procedure classification published by the United States for classifying procedures performed in hospi ...

Infection Disease Ontology Malaria

An application ontology for malaria extending the infectious disease ontology (IDO). With about half a billion cases, of which nearly one million fatal ones, malaria constitutes one of the major infectious diseases worldwide. A recently revived effor ...


The need to represent knowledge about food is central to many human activities including agriculture, medicine, food safety inspection, shopping patterns, and sustainable development. FoodOn is built to interoperate with the OBO Library and to repres ...


HumanMine integrates many types of data for Homo sapiens and Mus musculus. You can run flexible queries, export results and analyse lists of data.


WormQTLHD is an online scalable system for QTL exploration to service the worm community. WormQTLHD provides many publicly available datasets and welcomes submissions from other worm researchers

BEI Resource Repository

BEI Resources provides reagents, tools and information for studying Category A, B, and C priority pathogens, emerging infectious disease agents, non-pathogenic microbes and other microbiological materials of relevance to the research community.

Pediatric Terminology

Terms associated with pediatrics, representing information related to child health and development from pre-birth through 21 years of age; contributed by the National Institute of Child Health and Human Development.

Ontology of Glucose Metabolism Disorder

Ontology of Glucose Metabolism Disorder includes disease names, phenotypes and their classifications involved in Glucose Metabolism Disorder, Diabetes. It must be used with other two ontologies, in the case of Diabetes: the Ontology of Geographical R ...

Mouse PATHology

Mouse PATHology (MPATH) ontology is a structured controlled vocabulary of mutant and transgenic mouse pathology phenotypes. This resource was developed by the Pathology Consortium of Pathbase (www.pathbase.net).


Satellog is a database that catalogs all pure 1-16 repeat unit satellite repeats in the human genome along with supplementary data. Satellog analyzes each pure repeat in UniGene clusters for evidence of repeat polymorphism.


A database for systems biology of DNA dynamics during the cell life.

European Medical Information Framework Catalogue

The EMIF catalogue contains extensive metadata on a number of European health data resources, such as registries, EHRs, biobanks etc., organized by a number of communities, such as EMIF-EHR, EMIF-AD, EPAD, ADVANCE, [email protected], PIONEER etc. The met ...

Radiology Gamuts Ontology

The Radiology Gamuts Ontology (RGO) is a knowledge resource for radiology diagnosis. RGO hosts more than 2,000 differential-diagnosis listings for imaging findings in all body systems. One can view all of the causes of an finding, then click on one o ...

Adverse Drug Reaction Markup Language

The Adverse Drug Reaction Markup Language (EU-ADR ML) was created to as part of the EU-ADR project. The ultimate aim of this project was to develop an innovative approach to the early detection of adverse drug reactions. The status of this format is ...


Free knowledge database project hosted by Wikimedia and edited by volunteers.

International Classification of Diseases Version 10 - Clinical Modification

The ICD-10-CM is a morbidity classification for classifying diagnoses and reason for visits in all American health care settings. The ICD-10-CM is based on the ICD-10, the statistical classification of disease published by the World Health Organizati ...

Parkinson's Disease Ontology

The Parkinson's Disease Ontology (PDO) was created to represent and model the Parkinson's Disease knowledge domain. This ontology with a covers major biomedical concepts from molecular to clinical features of the disease as well as the different view ...

MUGEN mouse database

The MUGEN mouse database (MMdb) is a database of murine models of immune processes and immunological diseases.

Cancer Research and Management ACGT Master Ontology

The intention of the ACGT Master Ontology (MO) is to represent the domain of cancer research and management, with special emphasis on mammary carcinoma (“breast cancer”), Wilms’ tumor (nephroblastoma) and rhabdoid tumor.


PhenoDis is a manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases. PhenoDis is primarily concerned with the assignment of clinical symptoms to rare diseases using the biomedical literature ...

COPD Ontology

The COPD Ontology is a biomedical ontology used for modelling concepts associated to chronic obstructive pulmonary disease in routine clinical databases. There are a no plans to revise this ontology in the near future and therefore the version shown ...


STOREDB provides infrastructure for sharing data and resources in radiation biology and epidemiology. It is a platform for the archiving and sharing of primary data and outputs of all kinds, including epidemiological and experimental data, from resea ...

Clinical Trials Ontology

The Clinical Trials Ontology (CTO) is also known as the Clinical Trial Ontology-Neurodegenerative Diseases (CTO-NDD), and describes clinical trials in the field of neurodegeneration. This resource has been created for use in the IMI-funded AETIONOMY ...

Computer Retrieval of Information on Scientific Projects Thesaurus

CRISP is a terminology used for indexing biomedical information. CRISP contains over 8,000 preferred terms that are grouped hierarchically into 11 domains.


The RAMEDIS system is a platform independent, web-based information system for rare metabolic diseases based on filed case reports. It was developed in close cooperation with clinical partners to allow them to collect information on rare metabolic di ...


The UniProt Reference Clusters are three separate datasets that compress sequence space at different resolutions, achieved by merging sequences and sub-sequences that are 100% (UniRef100), >=90% (UniRef90), or >=50% (UniRef50) identical, regardless o ...

Therapeutically Relevant Multiple Pathways Database

The Therapeutically Relevant Multiple Pathways Database is designed to provide information about such multiple pathways and related therapeutic targets described in the literatures, the targeted disease conditions, and the corresponding drugs/ligands ...

Human Diseases Thesaurus

The Human Diseases Thesaurus describes human diseases, and is part of the Medicine vocabulary used from 1972 to 2015 for indexing bibliographical records in the now-archived PASCAL database (http://pascal-francis.inist.fr/). It is available in Englis ...

International Classification of Diseases for Oncology 3rd Revision

The International Classification of Diseases for Oncology (ICD-0) has been used for nearly 25 years, principally in tumor or cancer registries, for coding the site (topography) and the histology (morphology) of the neoplasm, usually obtained from a p ...

Apollo Library

The Apollo Library contains machine interpretable representations of epidemics, infectious disease scenarios, and case series.

EORTC clinical trials

European Organisation for Research and Treatment of Cancer database of clinical trials.

Wheat Trait Ontology

Wheat Trait Ontology is an ontology of wheat traits and environmental factors that affect these traits. They include resistance to disease, development, nutrition, bread quality, etc. Environmental factors include biotic and abiotic factors. An alter ...

MedlinePlus Health Topics

This resource provides information on the symptoms, causes, treatment and prevention for a wide range of diseases, illnesses, health conditions and wellness issues. MedlinePlus health topics are regularly reviewed, and links are updated daily.

Epilepsy Ontology

Ontology about the epilepsy domain and epileptic seizures. Based on the diagnosis proposed by the International League Against Epilepsy (ILAE).

Pharmacovigilance Ontology

The pharmacovigilance ontology connects known facts on drugs, disease, ADEs, and their molecular mechanisms.

Neuroscience Information Framework Dysfunction

This ontology contains the former BIRNLex-Disease, version 1.3.2. -- The BIRN Project lexicon will provide entities for data and database annotation for the BIRN project, covering anatomy, disease, data collection, project management and experimental ...

Animal Health Ontology for Livestock

The AHOL ontology (Animal Health Ontology for Livestock) was built collaboratively within a network of experts in the livestock health field, in order to describe production diseases. Its structure is based on the type of disease: communicable, non c ...


Orphadata provides the scientific community with comprehensive, quality datasets related to rare diseases and orphan drugs from the Orphanet knowledge base, in reusable formats.

Monarch Initiative

Human disease-related phenotypes in model organisms

Sleep Domain Ontology

An application ontology for the domain of Sleep Medicine.

Type 2 Diabetes Knowledge Portal

The Type 2 Diabetes Knowledge Portal is an open-access resource for human genetic information on type 2 diabetes (T2D). It is a central repository for data from large genomic studies that identify DNA variants whose presence is linked to altered risk ...


Genomics of fungal, oomycete and bacterial phytopathogens

Breast Cancer Grading Ontology

Breast Cancer Grading Ontology assigns a grade to a tumor starting from the 3 criteria of the NGS.


BenchSci is a free platform designed to help biomedical research scientists quickly and easily identify validated antibodies from publications. Using various filters including techniques, tissue, cell lines, and more, scientists can find out publishe ...

The Lafora Database

A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for t ...

Ontology of Language Disorder in Autism

Language terms used in the domain of autism. The language terms were obtained via text mining and automatic retrieval of terms from the corpus of PubMed abstracts.

Drug Database for Inborn Errors of Metabolism Ontology

DDIEM Ontology for the Drug Database for Inborn Errors of Metabolism. The DDIEM database is a database of therapeutic strategies and treatments for inborn errors of metabolism. These strategies are classified by mechanism and outcome using the DDIEM ...

Animal Diseases Ontology

The Animal Diseases Ontology (ANDO) includes information on diseases of production animals and their related pathogenic agents in French and English.

Parkinson Disease Mutation Database

The Parkinson disease Mutation Database (PDmutDB) aims at collecting all known mutations in the genes related to Parkinson disease (PD). Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations ...

California Vectorborne Disease Surveillance System

CalSurv is a comprehensive information on West Nile virus, plague, malaria, Lyme disease, trench fever and other vectorborne diseases in California — where they are, where they’ve been, where they may be headed and what new diseases may be emerging.T ...

Semantic reference model for making rare disease resources linkable

A subset of ontology classes and properties for connecting rare disease data in the context of creating FAIR rare disease data 'at the source'. The aim is to facilitate data annotation at the source in order to enable questions and analysis across ra ...

BIOchemical PathwaY DataBase

BIOPYDB is a manually-curated database of human cell specific biochemical pathway data. The information within BIOPYDB is primarily extracted from published scientific literature and a selection of databases. The reconstructed pathways contain inform ...

Growing Up Today Study

The Growing Up Today Study is a collaborative study between clinicians, researchers, and thousands of participants across the US and beyond. The aim of this study is to gain a deeper understanding of the factors that affect health throughout life. T ...

Breast tissue cell lines

List of cell lines derived from breast tissue, both normal and pathological. The ontology in built in OWL with cross relation to classes- genetic variation, pathological condition, genes, chemicals and drugs.


Wiki-Pi is a wiki resource centered on human protein-protein interactions. Wiki-Pi's intuitive search functionality allows you to retrieve and discover interactions effectively.

LifeMap Discovery

LifeMap Discovery® is a compendium of embryonic development for stem cell research and regenerative medicine, constructed by integrating extensive molecular, cellular, anatomical and medical data curated from scientific literature and high-throughput ...


The ClinicalCodes repository aims to hold code lists for all published electronic medical record studies, irrespective of code type (e.g. Read, ICD9-10, SNOMED) and database (CPRD, QResearch, THIN etc.). Once deposited, code lists will be freely avai ...

Breast Cancer Surveillance Consortium

The Breast Cancer Surveillance Consortium (BCSC) is a research resource for studies designed to assess the delivery and quality of breast cancer screening and related patient outcomes in the United States. The BCSC is a collaborative network of seven ...

Cystic Fibrosis Mutation Database

The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for ...

Pediatric MRI Data Repository

This site provides information about the NIH MRI Study of Normal Brain Development (Pediatric MRI Study) and resulting Pediatric MRI Data Repository. This website serves as the portal through which data can be obtained by qualified researchers. The o ...

Chesapeake Bay Data Hub

This interface provides access to several types of data related to the Chesapeake Bay. Bay Program databases can be queried based upon user-defined inputs such as geographic region and date range. Each query results in a downloadable, tab- or comma-d ...

BCCM/IHEM Fungi Collection: Human & Animal Health

BCCM/IHEM is a fungal culture collection specialized in medical and veterinary isolates. About 15.000 strains are available from all over the world: yeasts and filamentous fungi, pathogens, allergenic species, strains producing mycotoxins, reference ...

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