Sabrina Toro

> some suscept. terms are still being inferrred as children of familial cancer What!?!?!? this is weird!! I am 98% sure I reviewed these ones and they were not children...

no, for some reason, it is being inferred... For whatever reason, the familial cutaneous melanoma had a susceptibility Equivalent axiom (?! Don't know why or how, but I removed it).

@nicolevasilevsky what is left to do on this issue? Do we still have questions for Ada and Peter?

This is a complicated issue. I am adding my analysis in 3 different comments, including the to-do list. @kanems, @nicolevasilevsky, @twhetzel , when you have a moment, could you please...

**Comment 1: "epidermolytic hyperkeratosis 2"** The existing OMIM:620150 (currently referring to MONDO:0958184 'epidermolytic hyperkeratosis 2') was recently updated in OMIM (on 02/07/2024). 2 terms now represents 'epidermolytic hyperkeratosis 2' -...

**Comment 2: "general classification"** General classification should follow orphanet. **Parent term** = Keratinopathic ichthyosis (ORDO:281103) = MONDO:0017266 **Children:** Term names in orphanet | Orphanet ID | OMIM mappings according to...

**Comment 3: "Epidermolytic hyperkeratosis"** **finding 1:** From PMID:28815464 Epidermolytic ichthyosis is the **major variant of keratinopathic ichthyosis**, an umbrella term for ichthyosis caused mostly by dominant-negative mutations in the keratin...

Left to do: - [ ] merge 'epidermolytic hyperkeratosis' (MONDO:0957316) into 'epidermolytic ichthyosis' (MONDO:0007239) - [ ] review that the classification and IDs are correct based on comment 3 -...

- Other neurodevelopmental disease are due to a variation in EEF1A2. Therefore EEF1A2-Related Neurodevelopmental should not be added as a synonym. To do: - [x] add exact synonym: "ZC4H2-associated disorder"...

To do (2) : create a new term: PRRT2-Associated Paroxysmal Movement Disorders @galyea123 , could you please help with the classification? - what should the parent term be? - what...