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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Fetal valproate spectrum disorder: wrong MONDO xref in HPOA #10558

Closed peupeubangbang closed 1 month ago

peupeubangbang commented 1 month ago

Disease ID and Name Fetal valproate spectrum disorder ORPHA:1906 MONDO:0012275 (currently incorrect xref MONDO:0011929 1p36 deletion syndrome)

Further information (Frequency, Onset, Pubmed-references, Comments) Not sure if this is an error from HPOA pipeline or not but MONDO xref is currently incorrect linking to 1p36 deletion syndrome (MONDO:0011929), which then populates an incorrect definition into HPO via MONDO xref (im assuming).

HPO annotations look correct though :)

https://hpo.jax.org/browse/disease/ORPHA:1906

peupeubangbang commented 1 month ago

@pnrobinson closing this as checked HPOA file and that had no MONDO xref in them. So file looks good.

I obviously don't understand how MONDO gets linked to the Orphanet diseases and populated in HPO web browser but they all seem to be linking to 1p36 deletion syndrome (MONDO:0011929) from HPO website. Its the Orphanet ones that have the incorrect MONDO xref at the moment (OMIM diseases look okay).