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Description
Based on this PR review for this commit diff, there were a handful of very minor items related to representation of synonyms from OMIM. This ticket lists these issues to document them.
(1) there are a handful of synonyms from OMIM in the diff that still have "..., formerly" EXACT
Examples:
synonym: "ANOP1, formerly" EXACT [OMIM:301590]
synonym: "maa" RELATED [OMIM:309800]`
+ synonym: "MAA, formerly" EXACT ABBREVIATION [OMIM:309800]
+ synonym: "microphthalmia, syndromic 4" RELATED [OMIM:309800]
synonym: "microphthalmia, syndromic 4, formerly" EXACT [MONDO:Lexical, OMIM:301590]
synonym: "deafness, autosomal recessive 105" NARROW [OMIM:616958]
- synonym: "deafness, autosomal recessive 105, formerly" EXACT [OMIM:608653]
synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" EXACT [OMIM:617450]
- synonym: "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, formerly" EXACT [OMIM:617450]
synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities" EXACT [OMIM:618007]
- synonym: "neurodevelopmental disorder with brain, liver, and lung abnormalities, formerly" EXACT [OMIM:613658]
synonym: "cap myopathy 1" EXACT []
- synonym: "cap myopathy 1, formerly" EXACT [OMIM:255310]
(2) synonym: "ERYTHROCYTE ADA, ELEVATED, HEMOLYTIC ANEMIA DUE TO" EXACT ABBREVIATION [OMIM:301083] --> this is not an abbreviation
(3) synonym not parsed correctly. The OMIM content is not being parsed correctly for https://omim.org/entry/609029 so the value 22) is incorrectly represented as a synonym in omim.owl.
These are all very minor issues and may be an issue with the omim data files and/or an issue already resolved.