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monarch-initiative / maxo-annotations

Annotations to terms of the Medical Action Ontology (MAxO)
https://monarch-initiative.github.io/maxo-annotations/
Creative Commons Attribution 4.0 International
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manganese chelation #22

Open pnrobinson opened 2 years ago

pnrobinson commented 2 years ago

https://omim.org/entry/617013?search=617013&highlight=617013

https://pubmed.ncbi.nlm.nih.gov/27231142/

LCCarmody commented 2 years ago

This is the same as #12 so closing 12 (info from previous ticket below)

"https://pubmed.ncbi.nlm.nih.gov/22341971/

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

Chelation therapy can normalize the manganesemia, leading to marked clinical improvements."

LCCarmody commented 1 month ago

added maxo term. Will be available for this coming release.