I was reviewing a new parser and noticed a strange normalization event.
OMIM:188400 (DiGeorge Syndrome) normalized to NCBIGene:1714 (DiGeorge syndrome chromosome region)
I checked node normalizer and it is in fact an equivalent identifier for both NCBIGene:1714 and MONDO:0008564
I think this is because https://omim.org/entry/188400 contains:
CHROMOSOME 22q11.2 DELETION SYNDROME
HYPOPLASIA OF THYMUS AND PARATHYROIDS
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME
Other entities represented in this entry:
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
TAKAO VCF SYNDROME, INCLUDED
CATCH22, INCLUDED
response_1785515302777.json
How would we handle this for this particular parser? because the intended statement is disease -> has_phenotype -> phenotype
@cbizon @gaurav
I was reviewing a new parser and noticed a strange normalization event.
OMIM:188400 (DiGeorge Syndrome) normalized to NCBIGene:1714 (DiGeorge syndrome chromosome region)
I checked node normalizer and it is in fact an equivalent identifier for both NCBIGene:1714 and MONDO:0008564
I think this is because https://omim.org/entry/188400 contains:
response_1785515302777.json
How would we handle this for this particular parser? because the intended statement is disease -> has_phenotype -> phenotype
@cbizon @gaurav