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please add medgen ids to the uberdisease ontology for xrefs. these will be useful for linking with clinvar data. http://www.ncbi.nlm.nih.gov/medgen/docs/faq/#rel
also found this possibly relevant: ftp://ftp.ncbi.nih.gov/pub/medgen/MedGen_HPO_OMIM_Mapping.txt.gz
ftp://ftp.ncbi.nih.gov/gene/DATA/mim2gene_medgen
also see related monarch-initiative/disease-miner#5 and https://support.crbs.ucsd.edu/browse/NIF-11766
The text was updated successfully, but these errors were encountered:
Also note that the medgen-to-omim (and other vocab) mappings here can't be trusted as equivalence classes. For example, for Hermasky-Pudluck syndrome, http://beta.neuinfo.org/mynif/search.php?q=DOID_3753&dis=Hermansky-Pudlak%20syndrome&t=indexable&nif=nlx_151671-4&b=0&r=20 it has several subtypes; each one maps to GeneReviews:NBK1287, which is for a general type of Hermansky-Pudlak.
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yeah i think i would want to manually review all medgen xrefs...
This issue was moved to monarch-initiative/monarch-disease-ontology-RETIRED#8
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please add medgen ids to the uberdisease ontology for xrefs. these will be useful for linking with clinvar data.
http://www.ncbi.nlm.nih.gov/medgen/docs/faq/#rel
also found this possibly relevant:
ftp://ftp.ncbi.nih.gov/pub/medgen/MedGen_HPO_OMIM_Mapping.txt.gz
ftp://ftp.ncbi.nih.gov/gene/DATA/mim2gene_medgen
also see related monarch-initiative/disease-miner#5
and https://support.crbs.ucsd.edu/browse/NIF-11766
The text was updated successfully, but these errors were encountered: