Aim 2.3.2 Biological curation process

[sagehrke]

We will develop consensus guidelines for when a new disease should be defined. This will require review of mentions in the literature or other sources; determining whether molecular mechanisms would differentiate it from existing diseases; assessing how the gene, the variant(s), and the presence/absence of phenotypic feature(s) would differentiate it from existing diseases; inheritance pattern, etc. Each contributor will be provided with training guidance, technical contribution instructions, and provenance and attribution requirements and representation. Fully onboarded contributors will be assigned dedicated ranges of identifiers to use for the creation of new disease terms.

[nicolevasilevsky]

• [ ] review and update disease naming document

[sabrinatoro]

• Design patterns are created and maintained to name, define, and classify diseases in a consistent manner
• We have documentation providing guidance and SOP on how to make changes to the ontology, including how to create new terms, how to record sources, etc
• we participate in developing regular lessons (see obo academy) to teach contributors how to edit ontologies.

To Do (proposal):

• [ ] create clear guidelines and documentation related to disease versus phenotype

[nicolevasilevsky]

we have a section on disease naming in our FAQ: https://mondo.monarchinitiative.org/pages/faq/

[nicolevasilevsky]

this doc is on disease vs phenotype: https://docs.google.com/document/d/1hLlt3hupLgQFFzID9a-qf2c48C_1cFU2vUDzl1wkn3Y/edit?disco=AAAALefYrWo (in progress)