search

NCI-Thesaurus / thesaurus-obo-edition

OBO Library edition of NCIt
22 stars 8 forks source link

revised def for Ehlers-Danlos Syndrome, Type I and II in Mondo #64

Open nicolevasilevsky opened 3 years ago

nicolevasilevsky commented 3 years ago

FYI - in Mondo we revised the definitions of Ehlers-Danlos Syndrome, Type I and II to match OMIM (https://omim.org/entry/130000) and (https://omim.org/entry/130010).

Type I is due to a dysfunction in COL5A1 only and type II is due to dysfunction in COL5A2 only.

Reporting here in case NCIT wants to align with us and OMIM.

nicolevasilevsky commented 3 years ago

related to https://github.com/monarch-initiative/mondo/issues/2558