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Orphanet's 'Modifying germline mutation in' mismapped to RO:0004016 #818

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kshefchek opened this issue Aug 26, 2019 · 0 comments
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@kshefchek
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In https://github.com/monarch-initiative/dipper/blob/master/translationtable/orphanet.yaml#L10

Modifying germline mutation in is mapped to 'is causal germline mutation partially giving rise to', which results in some g2d associations being miscategorized as causal on the current beta.

@mbrush @cmungall is there a better relation available?

See also monarch-initiative/monarch-cypher-queries@12c084e

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