monarch-initiative / deprecated-human-disease-ontology

Deprecated, see README
Other
0 stars 0 forks source link

We have annotations to Orphanet IDs not in ORDO OWL #17

Closed cmungall closed 9 years ago

cmungall commented 9 years ago

We have 114 Orphanet IDs for which we have HP annotation, but the ID does not exist in the ORDO OWL export.

These appear to correspond to entries with no classification. E.g.

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139498 'Brachydactyly type D'

Should we try and classify these? E.g. this one would go under DOID:0050581 ! brachydactyly

or

Orphanet:294937 ! Brachydactyly Orphanet:69028 ! Syndrome with brachydactyly

cmungall commented 9 years ago

We at least need labels for these. Maybe @jamesmalone can shed some light on the ordo pipeline. But in the interim the labels could come from dipper

mellybelly commented 9 years ago

If you add them to a file with the DC terms @nicolevasilevsky can categorize them. Same file as Decipher terms?

nicolevasilevsky commented 9 years ago

I'm happy to help. Please let me know specifically what you would like me to do. :)

nicolevasilevsky commented 9 years ago

This issue was moved to monarch-initiative/monarch-disease-ontology#25