Treatable ID

Диагностика излечимых редких заболеваний, вызывающих умственную отсталость

The Treatable-ID app is an interactive tool that focusses on the diagnosis of 116 inborn errors of metabolism which are causally related to Intellectual Disability and amenable to therapy.

These diseases are presented in this app as an interactive tool for the clinician and scientist, both expert and trainee.

The information is presented in several different ways: ranging from the biochemical categories, signs & symptoms, diagnostic tests, genes, to therapies & evidence.

For each condition a disease page has been created as information portal with access to specific genetics, biochemistry, phenotype, diagnostic tests and therapeutic options. Online Resources include: OMIM, Gene Reviews, Orphanet, Gene Cards, Wikipathways and more.