maglott

NCBI and UMLS have used the strategy of treating each 'included' term as a distinct concept and merging later if review indicates that some of the included terms within a...

Would the value of relation capture the level of the relationship? i.e. generic vs. specific? Ideally , if there is a generial node, say from Orphanet, and 3 gene-specific subnodes,say...

For completeness, I want to mention that HGVS/ISCN have discussed a standard method to define translocations and other complex alleles. ClinVar and GTR try to adhere to those recommendations but...

Thanks. This will help NCBI a lot in completing the integration of MONDO XRefs. From the October release (yes, we are a bit behind), I found 367 such cases. I...

I know this ticket was originally about exact synonyms with preferred terms, but we also see the same exact synonym for more than 1 Mondo ID. Will these be included...

Is http://linkedlifedata.com/resource/umls/id/ truly official for UMLS? There is an api from UMLS: https://documentation.uts.nlm.nih.gov/rest/home.html

I still think they should be exact only if unique.

More capitalization issues: "iri" : "http://purl.obolibrary.org/obo/MONDO_0011010", "label" : "Matthew-wood syndrome", "iri" : "http://purl.obolibrary.org/obo/MONDO_0009191", "label" : "Lowry-wood syndrome"

NCBI generated a brief list exactly for the same purpose. I'll dig it out of the code later today. It won't be complete, but it is a start.

as I said, only a start: lower_name cap_name pattern behcet Behcet %[ ]behcet[ ]% brown Brown %[-]brown[-]% danlos Danlos %[ -]danlos[ -]% degos Degos %[ -]degos[ -]% dattani Dattani %[...