Closed maglott closed 4 years ago
Summarizing below, for my own benefit:
MONDO_0012647 'generalized epilepsy with febrile seizures plus, type 3'
was deprecated in OMIM and it was merged with MONDO_0011891 'epilepsy, childhood absence, susceptibility to, 2'
.
MONDO_0011891 'epilepsy, childhood absence, susceptibility to, 2'
was renamed to FEBRILE SEIZURES, FAMILIAL, 8; FEB8 in OMIM.
@cmungall should we follow OMIM? If yes, then I think the action item here is for Mondo to:
'generalized epilepsy with febrile seizures plus, type 3'
cc @maglott
I agree with your plan, thanks!
OMIM deprecated https://www.omim.org/entry/611277 and used the name it had had, namely FEBRILE SEIZURES, FAMILIAL, 8, to rename https://www.omim.org/entry/607681, which had been name EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; ECA2.
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; ECA2 is not reported as an alternate name for 697681; it is reported as included, which we have usually interpreted to indicate a distinct disorder.
Are these equivalent concepts, or should NCBI keep them distinct and clean up submissions to retain the distinction? Note also: Febrile seizures, familial, 8 is reported as a child of https://www.omim.org/phenotypicSeries/PS600131 UMLS still has distinct concepts: [C1969810] FEBRILE CONVULSIONS, FAMILIAL, 8 [C1843244] EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2