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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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Association between gene PAH (HGNC:8582) and HP:0000007 (MoI AR) not in genes_to_phenotype.txt anymore #9634

Closed roland-ewald closed 8 months ago

roland-ewald commented 1 year ago

HP:0000007

In the HPO browser the gene PAH is (correctly) associated with the mode of inheritance HP:0000007 (Autosomal recessive inheritance):

image

Bug description

The relation between this gene and this HPO term is not stored in the current genes_to_phenotype.txt or phenotype_to_genes.txt files anymore.

:arrow_right: This association is still present in v2022-04-14/genes_to_phenotype.txt, but not in v2022-06-11/genes_to_phenotype.txt.

pnrobinson commented 1 year ago

Hi @roland-ewald We are currently working on a fix for these issues @iimpulse, hopefully this should be online with the next release

roland-ewald commented 1 year ago

That's great! Thanks for letting me know.

pnrobinson commented 8 months ago

@roland-ewald Thanks for pointing this out. It is fixed:

grep PAH genes_to_phenotype.txt | grep Autosomal 5053 PAH HP:0000007 Autosomal recessive inheritance - OMIM:261600

roland-ewald commented 8 months ago

Great; thank you!