obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
Other
286 stars 51 forks source link

Obsolete Autistic Behavior #9587

Closed bcoleman96 closed 1 year ago

bcoleman96 commented 1 year ago

HPO term Autistic behavior

Reason for deprecation This term categorizes a complex combination of phenotypic features which are poorly defined. Many behaviors are related to the diagnosis of ASD, but these behaviors are not all closely related when using HPO's is_a relationship.

Suggested replacement or term to consider Abnormal social behavior (HP:0012433)

pnrobinson commented 1 year ago

I do not think we can obsolete this term because so much of the genetics literature uses it, and we would lose information if we replace it with a more generic term. Perhaps it is best to supply a warning that more detailed phenoptyping is desirable and that this term should not be used moving forward. This would be a good topic for the upcoming NIMH meeting!

bcoleman96 commented 1 year ago

I agree. Although I could see something like this being a time suck for the workshop. If we want to address it at the meeting, I think we should come up with a concise solution first. Otherwise, maybe we could revisit it after the workshop and see if a good replacement term has appeared.

pnrobinson commented 1 year ago

The problem is that we have 557 diseases annotated to this term https://hpo.jax.org/app/browse/term/HP:0000729 and for the most part, the original literature just says something like "autistic behavior" or "autistic features", and so if we obsolete this term, we lose a lot of information about these diseases.

pnrobinson commented 1 year ago

@bcoleman96 There is no way we can obsolete this term given the legacy of annotations. Closing for now. We need to add some statement about annotations for new data moving forward.