Support OMIM Phenotypic Series?

[ifokkema]

(after communication with Ada Hamosh)
LOVD currently uses OMIM IDs to identify diseases. OMIM sorts diseases by their molecular cause and doesn't define generic terms. In LOVD, sometimes initial diagnoses are stored that don't have an OMIM ID, such as "Limb-girdle muscular dystrophy" without linking to one of its subtypes. Ada mentioned the Phenotypic Series that we can then link to, e.g., https://www.omim.org/phenotypicSeries/PS253600. We should check if we can use these IDs to solve this problem.

Perhaps can be part of a larger project supporting OMIM better by using their APIs.

• Check a few of our "generic" diseases without an OMIM ID and see if we can find this as a Phenotypic Series.
• Check if we can easily integrate this with our API.
• Check what database changes we would need to apply to support this.
• Implement (to be defined).