Tag: rare disease

The European Genome-phenome Archive (EGA) allows you to explore datasets from genomic studies, provided by a range of data providers. Access to datasets must be approved by the specified Data Access Committee (DAC).

The Open Targets Platform is a comprehensive and robust data integration for access to and visualisation of potential drug targets associated with disease. It brings together multiple data types and aims to assist users to identify and prioritise tar ...

Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, including ...

Genomics England PanelApp is a publicly-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 and genomic entities (short tandem repeat ...

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.

The EU Clinical Trials Register contains information on interventional clinical trials on medicines conducted in the European Union (EU), or the European Economic Area (EEA) which started after 1 May 2004.

Semantic data model of the set of common data elements for rare disease registration. To make rare disease registry data Interoperable (the 'I' in FAIR). Version 2.0. License CC0. Here, we present a semantic data model of the set of common data eleme ...

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

DDIEM - Drug Database for inborn errors of metabolism is a database on therapeutic strategies for inborn errors of metabolism. These strategies are classified by mechanism and outcome in DDIEM ontology. DDIEM uses this ontology to categorize the expe ...

Rare Disease (RD) data are presented at the level of RD families, RD pedigrees, and participants. Participants are consenting individuals who have had their genome sequenced. Pedigree members are extended members of the proband’s family. Rare Disease ...

Data views that bring together data from several LabKey tables for convenient access Quickviews bring together data from several LabKey tables for convenient access, including: rare_disease_analysis Data for all rare disease participants including: ...

Patients with hospitalised Primary Biliary Cholangitis (PBC) from 2000 to date. Granular care pathways. Deeply phenotyped. Serial physiology, blood markers, outcome data. Demography, multi-morbidity, investigations and treatments.

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 ...