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EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
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Handle term "chitotriosidase deficiency" #392

Closed apriltuesday closed 10 months ago

apriltuesday commented 1 year ago

This one has the following comment in the EFO term https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0013586

Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo. Term to consider: none

Entry in OMIM: https://omim.org/entry/614122

We've repeatedly requested this to be added as a new term and it's been rejected by EFO. We should check why it's considered out of scope by Mondo, whether it's also out of scope for EFO and what other terms we could map the ClinVar trait to (it appears in 142 records as of June 2023).

apriltuesday commented 11 months ago

Created EBISPOT/efo#2109 to track

apriltuesday commented 10 months ago

Will be available as EFO_0022489 after December release.