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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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Polycystic kidney dysplasia #7733

Closed frichter closed 3 months ago

frichter commented 2 years ago

HPO term

"Polycystic kidney dysplasia" is not synonymous with "Enlarged polycystic kidneys" for HP:0000113. Enlarged polycystic kidneys are classically associated with ADPKD and ARPKD. Polycystic kidney dysplasia, which refers to kidneys with cysts that fail to grow, is not associated with these genetic diseases. These phenotypes need to be entered separately to ensure accurate genotype-phenotype relationships and enable making new discoveries with dysplastic kidneys.

Suggested revision and reasons

Suggest moving "Polycystic kidney dysplasia" to be a subclass of "Multicystic kidney dysplasia" (HP:0000003)

pnrobinson commented 3 months ago

@frichter sorry for the long delay, the last two years have been insanely busy with my move back to Germany. I think that the entire subhierarchy of renal cysts requires work. We are going to be having a workshop about this in Berlin this Fall. For now, I am removing the Enlarged polycystic kidneys synonym.