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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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Crest #6090

Closed tudorgroza closed 4 years ago

tudorgroza commented 4 years ago

Preferred term label: Crest

Synonyms

Definition (free text, please give PubMed ID)

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

Your nano-attribution (ORCID)

pnrobinson commented 4 years ago

@tudorgroza Sorry, but could you provide some more context? I do not know what crest is referring to here!

tudorgroza commented 4 years ago

@pnrobinson - Apologies for the lack of context. All terms I've submitted are in the context of rare pulmonary disorders - in particular the various sub-types of pulmonary hypertension. One of the key features of the group is CREST syndrome (https://en.wikipedia.org/wiki/CREST_syndrome). This does exist as a disease definition in Orphanet - hence not sure to what extent it makes sense as a phenotype. Thought I'd ask nevertheless. Thank you.

pnrobinson commented 4 years ago

I see - we would keep CREST as a disease (e.g. https://hpo.jax.org/app/browse/disease/ORPHA:90290). HPO terms should be for specific abnormalities, not for entire disease entities!