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New terms: children of variable age epilepsy syndrome #8455
New terms: children of variable age epilepsy syndrome #8455
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I have added the definitions here: https://docs.google.com/spreadsheets/d/1uLdhPQT3qiH1swlDTcj7omSe4-GGcWL96h-4Eo9wSJ8/edit?gid=1650269388#gid=1650269388 |
make original label a broad synonym address #8455
make original label a broad synonym address #8455
Question about "familial mesial temporal lobe epilepsy" MONDO:0800493 OMIM 611630 uses this same string as an alternate name for "EPILEPSY, FAMILIAL TEMPORAL LOBE, 3" (MONDO:0012705, familial temporal lobe epilepsy 3) and variations of the name "familial mesial temporal lobe epilepsy" are included as broad/related synonyms on this Mondo term. |
Thanks @kanems - I will look into this. |
This was a good catch, @kanems. I think that 'familial temporal lobe epilepsy 3' should be a subclass of 'familial mesial temporal lobe epilepsy'. According to ILAE, there can be more complex genetic forms too: "Complex/polygenic inheritance, with rare families reported with Mendelian inheritance, which may be recessive or dominant" I think we should keep this new class and add the OMIM class as a child. Thanks for reporting this. |
close #8455 this addresses newer comments: #8455 (comment)
See slide 98 from epilepsy workshop
Action items
ROBOT template here
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