[Revise subclass] MONDO:0005328 eye disease

[ValWood]

eye disease (MONDO:0005328)

Definition	Parents

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.

Are all of these children really 'eye diseases"

some look like they might be more appropriately descendants of the parent "disease of orbital region"

e.g. MONDO:0013768 arterial calcification, generalized, of infancy, 2 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.

MONDO:0008048 autosomal dominant centronuclear myopathy

probably via myopathy with eye involvement (MONDO:0020259)

this does not sound as though it would necessarily be classed as an eye disease.

I did not check the list thoroughly but we get a lot of inferences which seem slightly dodgy

[nicolevasilevsky]

Thanks for creating this ticket @ValWood! I will take a look at this asap (and your other tickets too)

[nicolevasilevsky]

I agree that MONDO:0013768 arterial calcification, generalized, of infancy, 2 does not seem like an eye disease. I am not sure why it has the parent 'oculocutaneous albinism', I think we can exclude this supclassOf relationship.

[nicolevasilevsky]

I think the classification: 'rare disorder with ptosis' ->'centronuclear myopathy'

may be incorrect. I'll look into it further and we can exclude the subclassOf assertion

[ValWood]

Thanks! No huge hurry, the migration overall looks pretty good, and we get much better coverage of most grouping terms in our slim. There may be a couple of further tickets as I see a couple more things I would like to QC check.

[cmungall]

I am not sure why it has the parent 'oculocutaneous albinism',

what's the axiom annotation say?

[nicolevasilevsky]

there is not a axiom annotation

[nicolevasilevsky]

@ValWood I excluded the subclass Of assertions for: MONDO:0013768 arterial calcification, generalized, of infancy, 2 MONDO_0018947 centronuclear myopathy

There are 2500 subclasses of 'eye disease', so I can't review this entire list. Could you please report any other issues as you see them? Thank you!

[cmungall]

thanks. some of these should fall out of the ordo cleanup work

[ValWood]

OK, I will have another look when these are gone. That was my plan anyway. I wasn't sure how many would go away when these terms were removed because I can't see all the hierarchy in our view, we just get a. flat list of everything under eye disease Like: https://www.pombase.org/term/MONDO:0005328