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

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nicolevasilevsky opened this issue Feb 4, 2021 · 1 comment
Open

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

nicolevasilevsky opened this issue Feb 4, 2021 · 1 comment
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NCI Issues which would be best addressed by the NCI development team

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@nicolevasilevsky
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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
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related to monarch-initiative/mondo#2558

@balhoff balhoff added the NCI Issues which would be best addressed by the NCI development team label Feb 15, 2021
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@balhoff @nicolevasilevsky