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Article

RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.

Human mutation - 1 Jan 2010

Töpel Thoralf, Scheible Dagmar, Trefz Friedrich, Hofestädt Ralf

Abstract excerpt

RAMEDIS is a manually curated resource of human variations and corresponding phenotypes for rare metabolic diseases. The system is based on separate case reports that comprehensively describe various aspects of anonymous case study, e.g. molecular genetics, symptoms, lab findings, treatments, etc. Scientists are able to make use of the database by a simple and intuitive web-based user interface with a common web...

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Identifiers

PMID: 19953641
DOI: 10.1002/humu.21169

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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