Known limitations in Disease and Conditions data

If you notice missing information or inaccuracies when working with our disease and conditions data, this may be the result of the following factors:

Currently Unavailable Ontologies

We’re not currently able to support mapping with the following ontologies:

• ICD11, MONDO, OMIM, HPO, NCiT, Orphanet

Known Gaps in Conditions Data

• Currently not every Condition is mapped to a Disease Area (a top-level broad category of related conditions, such as Neoplasms, Infections, Nervous System Diseases, etc.)

• As a result there are instances when a Disease Area that you might consider “known” is not represented in the Table Builder data.

Scheduled Improvements

We’re improving searchability and data consistency by merging synonyms within disease concepts, making it easier to find the information you need across different ontologies. Additionally, we’re expanding Disease Area categorization to ensure all relevant conditions are accurately grouped. As this work progresses, you’ll see more complete coverage in the Disease Area column within the Table Builder.

Workaround

For now we recommend that you use the original ontologies or classification systems directly to verify mappings if you are feeling uncertain.

Got a minute to help us improve? 

We value your experience and are eager to hear your thoughts. Whether it’s a hiccup or a suggestion, your feedback is a vital part of this development process. Send us feedback.