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childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0018206 and myopathy, proximal, and ophthalmoplegia MONDO:0011577 #8804

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galyea123 opened this issue Mar 3, 2025 · 0 comments
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@galyea123
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I believe these two terms are the same condition. MONDO links to OMIM https://omim.org/entry/605637 (Congenital myopathy 6 with ophthalmoplegia) which is childhood-onset autosomal recessive myopathy with external ophthalmoplegia (as per Orphanet: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia). Note that Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome also links to the same OMIM term (OMIM page list MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP
MYOPATHY WITH CONGENITAL JOINT CONTRACTURES, OPHTHALMOPLEGIA, AND RIMMED VACUOLES
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY; IBM3, FORMERLY) which means that they include the Orphanet term inclusion body myopathy 3, AD as a former synonym. Please consider reviewing these issues. Thank you, Gioconda Alyea

@galyea123 galyea123 added the merge label Mar 3, 2025
@sabrinatoro sabrinatoro added the on list Added to the obosletion or merge candidate list. label Mar 3, 2025
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