maglott

I think I've worked out query that provides some signal. I'll send a list next, with the following caveats: * NCBI has not processed the March release yet * NCBI...

Megan and I have been reviewing some of the terms unique to genemap2. One example is in https://www.omim.org/entry/158350. MONDO:0019002. genemap2.txt uses 'Lhermitte-Duclos syndrome' not Lhermitte-Duclos disease. It would be great...

Or, for https://www.omim.org/entry/613703, is 'Microphthalmia with coloboma 6' to be considered equivalent to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6? Submitters to the NIH Genetic Testing Registry have used the value from...

I see Orphanet also considers them synonymous: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3327