Enter your requested gene name, gene symbol or gene MIM number, or disease name or disease MIM number in the query zone that you have selected, and click OK to validate.
You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to you.
Each disease is described by a name, synonyms and relevant keywords. Each gene is described by its name in English and its symbol(s).
Genes in Orphanet are cross-referenced with Orphanet diseases, with HGNC, with OMIM, with GenAtlas and with UniProtKB/SwissProt.
- HGNC is a committee jointly funded by the US National Human Genome Research Institute (NHGRI) and the Wellcome Trust (UK). It operates under the auspices of HUGO, with key policy advice from an International Advisory Committee. It is in charge of approving gene names and symbols (short-form abbreviations). All approved symbols are stored in the HGNC database. Each symbol is unique and each gene is only given one approved gene symbol.
- OMIM is the database of genes and Mendelian phenotypes created by Pr. McKusick
- GenAtlas is a database of genes and phenotypes created by Pr Jean Frézal. A gene is included in GENATLAS if its location is supported by either a significant lod-score (>3) or relevant physical mapping.
- UniProtKB/Swiss-Prot Protein Knowledgebase is a manually annotated protein sequence database that provides a high level of annotation, a minimal level of redundancy and a high level of integration with other databases. It is a one-stop shop allowing easy access to all publicly available information about protein sequences.
The genes listed in Orphanet are those which are thought to be implicated in the pathophysiology of rare diseases. The information is extracted from the scientific literature and cross-validated
Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.
Orphanet aims to provide rare disease information to healthcare professionals, patients, and their relatives, in order to contribute improving the diagnosis, care and treatment of these diseases. Information in Orphanet is not intended to replace professional health care.
Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.