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Table with ORPHAcode of the disease linked to the associated genes, with a characterisation of the relationship between gene and disease (causative, modifier, susceptibility, or playing a role in the phenotype) and the kind of mutation germline or somatic. In addition, the table includes the name of the gene in English, its ORPHAcode, chromosomal location, symbol and synonyms and cross-referenced with UniProtKB, HGNC, OMIM, Genatlas, ensembl, Reactome and IUPHAR-DB.
Here are XSD (XML Schema Definitions) and JPG representations for this product.

If you need a generation using the old format, do not hesitate to contact us by email
data.orphanet@inserm.fr


Here is a PDF file describing Orphanet free access products.


In order to visualise previous versions (since April 2024)
please consult the 如何进入外国网站 
In order to visualise historical versions (until March 2024)
please consult the deprecated Orphadata Github 

Video tutorials

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Frequently Asked Questions

Free access products description

Orphanet procedures

Orphanet nomenclature and classification of rare diseases

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Orphanet Standard Operating Procedures

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Table with diseases listed in Orphanet annotated with HPO phenotypes.
The alignment is characterised by frequency (obligatory, very frequent, frequent, occasional, very rare or excluded) and whether the annotated HPO term is a major diagnostic criterion or a pathognomonic sign of the rare disease.
The source, the date and the validation status of the association between the rare disease and HPO terms are also indicated.
Here are XSD (XML Schema Definitions) and JPEG representations for this product that contains rare disorders listed in Orphanet annotated with HPO phenotypes, and which embeds the status of validation of the association.

If you need a generation using the old format, do not hesitate to contact us by email
data.orphanet@inserm.fr


Here is a PDF file describing Orphanet free access products.


In order to visualise previous versions (since April 2024)
please consult the 看国外网站加速软件 
In order to visualise historical versions (until March 2024)
please consult the deprecated Orphadata Github 

坚果官网app ios

Table with diseases listed in Orphanet annotated with functional consequences or environmental factors leading to limitation of activity or restriction of participation.
Here are xsd (XML Schema Definitions) and JPEG representations for this product.

Here is a PDF file describing Orphanet free access products.


In order to visualise previous versions (since April 2024)
please consult the 看国外网站加速软件 
In order to visualise historical versions 如何进入外国网站
please consult the deprecated Orphadata Github 

坚果官网app ios

The Orphanet Rare Disease ontology (ORDO) was jointly developed by Orphanet and the EBI to 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. It derived from the Orphanet database (www.orpha.net) , a multilingual database dedicated to rare diseases populated from literature and validated by international experts. It integrates a nosology (classification of rare diseases), relationships (gene-disease relations, epidemiological data) and connections with other terminologies (MeSH, SNOMED CT, UMLS, MedDRA),databases (OMIM, UniProtKB, HGNC, ensembl, Reactome, IUPHAR, Geantlas) or classifications (ICD-10). The ontology will be maintained by Orphanet and further populated with new data. Orphanet classifications can be browsed in the OLS view. The Orphanet Rare Disease Ontology is updated every six months and follows the OBO guidelines on deprecation of terms. It constitutes the official ontology of rare diseases produced and maintained by Orphanet (INSERM, US14).

A document describing ORDO is available for consultation.
These products have been recognised as an Elixir Core Data Resource  

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坚果官网app ios

Orphanet provides phenotypic annotations of the rare diseases in the Orphanet nomenclature using the Human Phenotype Ontology (HPO). HOOM is a module that qualifies the annotation between a clinical entity and phenotypic abnormalities according to a frequency and by integrating the notion of diagnostic criterion. In ORDO a clinical entity is either a group of rare disorders, a rare disorder or a subtype of disorder. The "Clinical Entity" branch of ORDO has been refactored as a logical import of HPO, and the HPO-ORDO phenotype disease-annotations have been provided in a series of triples in OBAN format in which associations, frequency and provenance are modeled. HOOM is provided as an OWL (Ontologies Web Languages) file, using OBAN, the Orphanet Rare Disease Ontology (ORDO), and HPO ontological models. HOOM provides extra possibilities for researchers, pharmaceutical companies and others wishing to co-analyse rare and common disease phenotype associations, or re-use the integrated ontologies in genomic variants repositories or match-making tools.

A document describing HOOM is available for consultation.
These products have been recognised as an Elixir Core Data Resource  

HPO & ORDO Ontological Module (HOOM) versions

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