genetic bone tumor vs rare bone tumor

[cmungall]

I'm confused about the distinction between these in ORDO. Neither term has definitions, so we have to try and infer from the names or the graph what they mean precisely. The naming is confusing since it's not totally clear what a genetic tumor is.

If we first look at the terms ancestors it's a little odd:

it's not clear why "Rare genetic tumor" is not a subclass of "Rare tumor", or "Rare neoplastic disease". Similarly, it's not clear why "genetic bone tumor" is not a subclass of "rare bone tumor", since as far as I know bone tumors are all rare.

We can also look at the descendants:

My hunch from looking at this is that "genetic bone tumor" means an inherited syndrome characterized by bone tumors. Is this correct? Perhaps the naming conventions could be changed here?

I think there may be one mistake in the graph. All of the children of "genetic bone tumor" are also children of "rare bone tumor" (supporting the fact that these groupings should be in a mutual subclass). The exception is chordoma which is under GBC but not RBC. https://rarediseases.org/rare-diseases/chordoma/ states that Chordomas are rare, and chordomas are not syndromes like the other RBC children, so I think the intention may have been to place it under RBC rather than GBC?

[cmungall]

not completely sure about adamantinoma either

[annieolry]

Chordoma and adamantinoma classifications have been corrected in Orphanet. Chordoma is now both under GBC and RBC. Adamantinoma has been removed from GBC. This will be updated in the next ORDO version Thanks Annie