is a Data Source.
The encyclopedia of Rare disease Annotation for Precision Medicine (eRAM) is a standardized system providing computational annotations for rare diseases to support precision medicine. eRAM provides annotations for approximately 16,000 rare diseases, including detailed information on clinical phenotypes, symptoms, genes, and genotypes. The database contains over 6,100 human disease-related phenotype terms, 31,600 mammalian phenotype terms, 10,200 symptoms from UMLS, 18,800 genes and 92,500 genotypes. eRAM organizes diseases in a tree structure to systematically display relationships between diseases with similar pathogenesis, close anatomical sites, the same clinical symptoms or subtypes, facilitating both research into rare disease mechanisms and clinical diagnosis and treatment decisions.
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| eram.web | eRAM Web Interface | eram | GraphicalInterface | http | Web-based interface for browsing and ... |
| eram.downloads | eRAM Data Downloads | download.php | Product | mixed | Downloadable data files containing ra... |
The encyclopedia of Rare Disease Annotation for Precision Medicine (eRAM) provides computational annotations for rare diseases to support precision medicine applications. Developed to address the limited knowledge of rare diseases that forms a major obstacle to improving their treatment, eRAM focuses on detailed clinical phenotyping as a keystone for deciphering genes related to rare diseases and realizing precision medicine.
eRAM integrates information from multiple authoritative sources including the Human Disease Network, Online Mendelian Inheritance in Man (OMIM), the Unified Medical Language System (UMLS), the Disease Ontology, Medical Subject Headings (MeSH), and Orphanet.
This resource has the Information Resource identifier: infores:eram
Created: November 19, 2025 | Last modified: June 01, 2026