Genome
Expert.Knowledge
base
Industry
Genetics
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The
knowledge
base
of
hereditary
diseases
is
formed
taking
into
account
analytical
review
and
adaptation
of
modern
clinical
genetic
catalogues,
biomedical
databases,
classifications
and
ontologies
in
different
areas
of
medical
genetics,
specialised
domestic
and
foreign
literature
(OMIM,
Orphanet,
Monarch,
HPO,
HMDB,
etc.).
For whom
Medical organisations
Scientific organisations
Educational organisations
Science, education, health care, industry and government bodies
Charitable foundations
Charitable foundations
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- The user of the Knowledge Base gets access to a systematised repository of information in the field of medical genetics with description of hereditary diseases, their symptom complexes of phenotypic features, indication of ‘disease-sign’ relationships, display of diagnostic significance of each clinical feature and other data
- Today the Knowledge Base includes more than 7 700 hereditary diseases, 3044 genetic diseases have more than 20 clinical features in their description, including more than 1000 genetic diseases represented by more than 50 clinical features. The expert community is continuously working on updating and filling the database
Learn more about the digital solution
Leave a request and our experts will organize a detailed demonstration of this solution
Request a demonstration
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Uniqueness
The knowledge base is not just a translation of one or another resource, but is a fully Russian analogue of recognised international resources, combining information from several sources (OMIM, Orphanet, Monarch) and supplemented with Russian data, including regulatory and legal acts.
Standards
Compliance with international medical data identification
Expertise
Participation of the expert community in the creation and updating of the knowledge base on a regular basis
Accessibility
Accessibility
Possibility of practical transition to the Russian resource, taking into account the risks of blocking international sources, as well as the advantage of using data adapted for the country
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Then
just
leave
a
request
and
the
company's
specialists
will
contact
you