Is there a way to map Medgen # to OMIM # programmatically?
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Entering edit mode
3 months ago
curious ▴ 750

I want to know which OMIM # is equivalent to a given MedGen #

If I manually search OMIM 145600 in MedGen, it returns a result for Concept ID: C2930980

I want to be able to programmatically take a list of OMIM # and get all the Medgen Concept ID's

Thanks!

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medgen omim • 297 views
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Entering edit mode
3 months ago

just use the mapping file from the NCBI: https://ftp.ncbi.nlm.nih.gov/pub/medgen/MedGen_HPO_OMIM_Mapping.txt.gz

$ wget -qO - "https://ftp.ncbi.nlm.nih.gov/pub/medgen/MedGen_HPO_OMIM_Mapping.txt.gz" | gunzip -c | awk -F '|' '($2==145600) {print $1;}' | sort | uniq
C2930980
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