Megan S. Kane

> Comment 3: Epidermolytic hyperkeratosis @nicolevasilevsky It looks like @sabrinatoro is suggesting a new Mondo term for the OMIM child concept, thus OMIM 113800 (EPIDERMOLYTIC HYPERKERATOSIS 1) and the DOID...

@katiermullen and @sabrinatoro any updates on this request? Do we need to reach out to Julie at Orphanet to get clarification about the scope of their term?

If users of HPO want to know what MeSH IDs are equivalent to an HPO phenotype, that is within the scope of MedGen's subset of UMLS processing. Both are at...

@MickeySegal anyone can write to the UMLS team via the NLM help desk and suggest a CUI merge. https://support.nlm.nih.gov/support/create-case/ Since these terms are both "C#######" formatted, they are both UMLS-based...

Thanks @katiermullen These citations are helpful! MedGen will add them to our entry for this concept as "suggested reading" for other folks (like me) who seem confused about this apparent...

Should MONDO:0957421 borna virus encephalitis somehow be connected to MONDO:0005676 borna disease in the ontology? They share 'grand' parents in the ontology, but it seems like they should be more...

Hi @twhetzel yes, that's the right Mondo ID, I copied the SNOMED CT preferred name from our database by error, whoops! The merge suggestion is MONDO:0004964 (peripheral T-cell lymphoma, not...

Thanks for this decision, MedGen will keep these separate as well.

I agree with this mapping/concept review. I will check our records to ensure we have correct/updated Mondo , OMIM and Orpha mappings to the best CUI in UMLS (if an...

> Would it make sense to move MONDO:0043226 'postpartum amenorrhea-galactorrhea syndrome' to a child of 'acquired hyperprolactinemia', use the definition from MeSH, and remove the synonym 'Chiari-Frommel syndrome' from 'acquired...