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Revise disease names and definitions with "mental retardation" #1417

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allenbaron opened this issue Dec 18, 2024 · 3 comments
Open

Revise disease names and definitions with "mental retardation" #1417

allenbaron opened this issue Dec 18, 2024 · 3 comments
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@allenbaron
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At least one example:
'cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome' (DOID:0050997) includes 'mental retardation' in its definition.

There may be others.

@lschriml
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lschriml commented Dec 18, 2024 via email

@lschriml
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lschriml commented Jan 6, 2025

Next step: identify how term is used in OMIM, follow OMIM.

@sbello
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sbello commented Jan 6, 2025

many of these are in the update spreadsheet from MGI if that helps
https://docs.google.com/spreadsheets/d/1SUiFOMGeO3QJfnevpXAPFN90UmAaeoIHF7u0X5lvgc4/edit?usp=sharing

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